WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
Linked Data
ClinVar Variation Id:
553170
ClinVar RCV Id:
RCV003472102
dbSNP Id:
rs1553552413
gnomAD v3:
2-151497713-T-TAACAC
gnomAD v4:
2-151497713-T-TAACAC
MyVariant Identifiers:
chr2:g.151497714_151497718dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.151497714_151497718dup , CM000664.2:g.151497714_151497718dup | GRCh38 |
| NC_000002.11:g.152354228_152354232dup , CM000664.1:g.152354228_152354232dup | GRCh37 |
| NC_000002.10:g.152062474_152062478dup | NCBI36 |
| NG_009382.2:g.241770_241774dup , LRG_202:g.241770_241774dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434685.6:c.3075-5224_3075-5220dup (NEB) | ||
| ENST00000688578.1:c.900-685_900-681dup (NEB) | ||
| ENST00000690043.1:c.6378-3465_6378-3461dup (NEB) | ||
| ENST00000693000.1:n.2657-5224_2657-5220dup (NEB) | ||
| ENST00000397345.8:c.24208_24212dup (NEB) MANE Select | ENSP00000380505.3:p.Tyr8072CysfsTer? | |
| ENST00000427231.7:c.24208_24212dup (NEB) MANE Plus Clinical | ENSP00000416578.2:p.Tyr8072CysfsTer? | |
| ENST00000172853.14:c.18826-1350_18826-1346dup (NEB) | ENSP00000172853.10:n.18826-1350_18826-134... | |
| ENST00000397337.6:c.609_613dup (NEB) | ||
| ENST00000397345.7:c.24208_24212dup (NEB) | ENSP00000380505.3:p.Tyr8072CysfsTer? | |
| ENST00000409198.5:c.18826-1350_18826-1346dup (NEB) | ENSP00000386259.1:n.18826-1350_18826-1346... | |
| ENST00000413693.5:c.8026-1350_8026-1346dup (NEB) | ENSP00000410961.1:n.8026-1350_8026-1346du... | |
| ENST00000421461.6:c.644_648dup (NEB) | ||
| ENST00000424585.1:c.610-685_610-681dup (NEB) | ENSP00000404876.1:n.610-685_610-681dup | |
| ENST00000427231.6:c.24208_24212dup (NEB) | ENSP00000416578.2:p.Tyr8072CysfsTer? | |
| ENST00000434685.5:c.1395-3465_1395-3461dup (NEB) | ||
| ENST00000454583.6:c.2754-1631_2754-1627dup (RIF1) | ||
| ENST00000457745.1:n.579-72_579-68dup (RIF1) | ||
| ENST00000484077.1:n.353-72_353-68dup (RIF1) | ||
| ENST00000498015.2:n.226-5224_226-5220dup (NEB) | ||
| ENST00000603639.5:c.24208_24212dup (NEB) | ENSP00000473894.1:p.Tyr8072CysfsTer? | |
| ENST00000604864.5:c.24208_24212dup (NEB) | ENSP00000474498.1:p.Tyr8072CysfsTer? | |
| ENST00000618972.4:c.24313_24317dup (NEB) | ENSP00000484342.1:p.Tyr8107CysfsTer? | |
| NM_001164507.1:c.24208_24212dup (NEB) | NP_001157979.1:p.Tyr8072CysfsTer? | |
| NM_001164508.1:c.24208_24212dup (NEB) | NP_001157980.1:p.Tyr8072CysfsTer? | |
| NM_001271208.1:c.24313_24317dup , LRG_202t1:c.24313_24317dup (NEB) | NP_001258137.1:p.Tyr8107CysfsTer? | |
| NM_004543.4:c.18826-1350_18826-1346dup (NEB) | NP_004534.2:n.18826-1350_18826-1346dup | |
| XM_005246590.1:c.24115_24119dup (NEB) | XP_005246647.1:p.Tyr8041CysfsTer? | |
| XM_005246591.1:c.24115_24119dup (NEB) | XP_005246648.1:p.Tyr8041CysfsTer? | |
| XM_005246592.1:c.24208_24212dup (NEB) | XP_005246649.1:p.Tyr8072CysfsTer? | |
| XM_005246593.1:c.24208_24212dup (NEB) | XP_005246650.1:p.Tyr8072CysfsTer? | |
| XM_005246594.1:c.24115_24119dup (NEB) | XP_005246651.1:p.Tyr8041CysfsTer? | |
| XM_005246595.1:c.24115_24119dup (NEB) | XP_005246652.1:p.Tyr8041CysfsTer? | |
| XM_005246596.1:c.24022_24026dup (NEB) | XP_005246653.1:p.Tyr8010CysfsTer? | |
| XM_005246597.1:c.24208_24212dup (NEB) | XP_005246654.1:p.Tyr8072CysfsTer? | |
| XM_005246598.1:c.24208_24212dup (NEB) | XP_005246655.1:p.Tyr8072CysfsTer? | |
| XM_005246599.1:c.23929_23933dup (NEB) | XP_005246656.1:p.Tyr7979CysfsTer? | |
| XM_005246600.1:c.23929_23933dup (NEB) | XP_005246657.1:p.Tyr7979CysfsTer? | |
| XM_005246601.1:c.23929-685_23929-681dup (NEB) | XP_005246658.1:n.23929-685_23929-681dup | |
| XM_005246602.1:c.23836_23840dup (NEB) | XP_005246659.1:p.Tyr7948CysfsTer? | |
| XM_005246603.1:c.23929-1350_23929-1346dup (NEB) | XP_005246660.1:n.23929-1350_23929-1346dup... | |
| XM_005246604.1:c.23929-685_23929-681dup (NEB) | XP_005246661.1:n.23929-685_23929-681dup | |
| XM_005246606.1:c.23836_23840dup (NEB) | XP_005246663.1:p.Tyr7948CysfsTer? | |
| XM_005246608.1:c.23929-3465_23929-3461dup (NEB) | XP_005246665.1:n.23929-3465_23929-3461dup... | |
| XM_005246610.1:c.23836-3465_23836-3461dup (NEB) | XP_005246667.1:n.23836-3465_23836-3461dup... | |
| XM_005246611.1:c.24021+3673_24021+3677dup (NEB) | XP_005246668.1:n.24021+3673_24021+3677dup... | |
| XM_005246612.1:c.23479_23483dup (NEB) | XP_005246669.1:p.Tyr7829CysfsTer? | |
| XM_005246613.1:c.23479_23483dup (NEB) | XP_005246670.1:p.Tyr7829CysfsTer? | |
| XM_005246615.1:c.23836_23840dup (NEB) | XP_005246672.1:p.Tyr7948CysfsTer? | |
| XM_005246616.1:c.*506_*510dup (NEB) | XP_005246673.1:n.*506_*510dup | |
| XM_005246617.1:c.21292_21296dup (NEB) | XP_005246674.1:p.Tyr7100CysfsTer? | |
| XM_006712541.1:c.23929-1350_23929-1346dup (NEB) | XP_006712604.1:n.23929-1350_23929-1346dup... | |
| XM_006712542.1:c.23929_23933dup (NEB) | XP_006712605.1:p.Tyr7979CysfsTer? | |
| XM_011511224.1:c.24115_24119dup (NEB) | XP_011509526.1:p.Tyr8041CysfsTer? | |
| XM_011511225.1:c.23743-3465_23743-3461dup (NEB) | XP_011509527.1:n.23743-3465_23743-3461dup... | |
| XM_011511226.1:c.22021_22025dup (NEB) | XP_011509528.1:p.Tyr7343CysfsTer? | |
| XM_011511227.1:c.19834_19838dup (NEB) | XP_011509529.1:p.Tyr6614CysfsTer? | |
| XR_922955.1:n.7838+14379_7838+14383dup (RIF1) | ||
| XR_922956.1:n.7937-72_7937-68dup (RIF1) | ||
| XR_922957.1:n.7839-72_7839-68dup (RIF1) | ||
| XM_005246590.2:c.24115_24119dup (NEB) | XP_005246647.1:p.Tyr8041CysfsTer? | |
| XM_005246591.2:c.24115_24119dup (NEB) | XP_005246648.1:p.Tyr8041CysfsTer? | |
| XM_005246592.2:c.24208_24212dup (NEB) | XP_005246649.1:p.Tyr8072CysfsTer? | |
| XM_005246593.2:c.24208_24212dup (NEB) | XP_005246650.1:p.Tyr8072CysfsTer? | |
| XM_005246594.2:c.24115_24119dup (NEB) | XP_005246651.1:p.Tyr8041CysfsTer? | |
| XM_005246596.2:c.24022_24026dup (NEB) | XP_005246653.1:p.Tyr8010CysfsTer? | |
| XM_005246597.2:c.24208_24212dup (NEB) | XP_005246654.1:p.Tyr8072CysfsTer? | |
| XM_005246598.2:c.24208_24212dup (NEB) | XP_005246655.1:p.Tyr8072CysfsTer? | |
| XM_005246599.2:c.23929_23933dup (NEB) | XP_005246656.1:p.Tyr7979CysfsTer? | |
| XM_005246601.2:c.23929-685_23929-681dup (NEB) | XP_005246658.1:n.23929-685_23929-681dup | |
| XM_005246602.2:c.23836_23840dup (NEB) | XP_005246659.1:p.Tyr7948CysfsTer? | |
| XM_005246603.2:c.23929-1350_23929-1346dup (NEB) | XP_005246660.1:n.23929-1350_23929-1346dup... | |
| XM_005246604.2:c.23929-685_23929-681dup (NEB) | XP_005246661.1:n.23929-685_23929-681dup | |
| XM_005246606.2:c.23836_23840dup (NEB) | XP_005246663.1:p.Tyr7948CysfsTer? | |
| XM_005246608.2:c.23929-3465_23929-3461dup (NEB) | XP_005246665.1:n.23929-3465_23929-3461dup... | |
| XM_005246610.2:c.23836-3465_23836-3461dup (NEB) | XP_005246667.1:n.23836-3465_23836-3461dup... | |
| XM_005246611.2:c.24021+3673_24021+3677dup (NEB) | XP_005246668.1:n.24021+3673_24021+3677dup... | |
| XM_005246612.2:c.23479_23483dup (NEB) | XP_005246669.1:p.Tyr7829CysfsTer? | |
| XM_005246613.2:c.23479_23483dup (NEB) | XP_005246670.1:p.Tyr7829CysfsTer? | |
| XM_005246615.2:c.23836_23840dup (NEB) | XP_005246672.1:p.Tyr7948CysfsTer? | |
| XM_005246617.2:c.21292_21296dup (NEB) | XP_005246674.1:p.Tyr7100CysfsTer? | |
| XM_006712541.2:c.23929-1350_23929-1346dup (NEB) | XP_006712604.1:n.23929-1350_23929-1346dup... | |
| XM_006712542.2:c.23929_23933dup (NEB) | XP_006712605.1:p.Tyr7979CysfsTer? | |
| XM_011511225.2:c.23743-3465_23743-3461dup (NEB) | XP_011509527.1:n.23743-3465_23743-3461dup... | |
| XM_011511226.2:c.22021_22025dup (NEB) | XP_011509528.1:p.Tyr7343CysfsTer? | |
| XM_011511227.2:c.19834_19838dup (NEB) | XP_011509529.1:p.Tyr6614CysfsTer? | |
| XM_017004177.1:c.24097_24101dup (NEB) | XP_016859666.1:p.Tyr8035CysfsTer? | |
| XM_017004178.1:c.24022_24026dup (NEB) | XP_016859667.1:p.Tyr8010CysfsTer? | |
| XM_017004179.1:c.23836-685_23836-681dup (NEB) | XP_016859668.1:n.23836-685_23836-681dup | |
| XM_017004180.1:c.23743_23747dup (NEB) | XP_016859669.1:p.Tyr7917CysfsTer? | |
| XM_017004181.1:c.23836-1350_23836-1346dup (NEB) | XP_016859670.1:n.23836-1350_23836-1346dup... | |
| XM_017004182.1:c.23836-1350_23836-1346dup (NEB) | XP_016859671.1:n.23836-1350_23836-1346dup... | |
| XM_017004183.1:c.23836-3465_23836-3461dup (NEB) | XP_016859672.1:n.23836-3465_23836-3461dup... | |
| XM_017004184.1:c.23836-1350_23836-1346dup (NEB) | XP_016859673.1:n.23836-1350_23836-1346dup... | |
| XM_017004185.1:c.23743-5224_23743-5220dup (NEB) | XP_016859674.1:n.23743-5224_23743-5220dup... | |
| XR_001738811.2:n.8312-72_8312-68dup (RIF1) | ||
| XR_001738812.2:n.8312-1691_8312-1687dup (RIF1) | ||
| XR_001738813.2:n.8214-72_8214-68dup (RIF1) | ||
| XR_001738814.2:n.8214-1691_8214-1687dup (RIF1) | ||
| XR_001738815.2:n.8214-5320_8214-5316dup (RIF1) | ||
| XR_001738816.2:n.8214-8496_8214-8492dup (RIF1) | ||
| XR_001738817.2:n.8213+14379_8213+14383dup (RIF1) | ||
| NM_001271208.2:c.24313_24317dup (NEB) | NP_001258137.2:p.Tyr8107CysfsTer? | |
| NM_004543.5:c.18826-1350_18826-1346dup (NEB) | NP_004534.3:n.18826-1350_18826-1346dup | |
| NM_001164507.2:c.24208_24212dup (NEB) MANE Plus Clinical | NP_001157979.2:p.Tyr8072CysfsTer? | |
| NM_001164508.2:c.24208_24212dup (NEB) MANE Select | NP_001157980.2:p.Tyr8072CysfsTer? |