Linked Data
ClinVar Variation Id:
365
ClinVar RCV Id:
RCV000000395
dbSNP Id:
rs267606608
PubMed:
PMID:12707950
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31249104_31249105insTG , CM000679.2:g.31249104_31249105insTG | GRCh38 |
| NC_000017.10:g.29576122_29576123insTG , CM000679.1:g.29576122_29576123insTG | GRCh37 |
| NC_000017.9:g.26600248_26600249insTG | NCBI36 |
| NG_009018.1:g.159128_159129insTG , LRG_214:g.159128_159129insTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696138.1:c.4140_4141insTG | ENSP00000512431.1:p.His1381CysfsTer20 | |
| ENST00000696139.1:c.1558_1559insTG | ENSP00000512432.1:n.1558_1559insTG | |
| ENST00000696140.1:n.201_202insTG | ||
| ENST00000687863.1:n.803_804insTG | ||
| ENST00000691014.1:c.4125_4126insTG | ENSP00000510595.1:p.His1376CysfsTer13 | |
| ENST00000358273.9:c.4095_4096insTG MANE Select | ENSP00000351015.4:p.His1366CysfsTer13 | |
| ENST00000356175.7:c.4095_4096insTG | ENSP00000348498.3:p.His1366CysfsTer20 | |
| ENST00000358273.8:c.4095_4096insTG | ENSP00000351015.4:p.His1366CysfsTer13 | |
| ENST00000456735.6:c.3093_3094insTG | ENSP00000389907.2:p.His1032CysfsTer20 | |
| ENST00000466819.5:c.571_572insTG | ||
| ENST00000479614.1:c.571_572insTG | ||
| ENST00000493220.5:n.2631_2632insTG | ||
| ENST00000495910.6:c.3870_3871insTG | ||
| ENST00000579081.5:c.4197_4198insTG | ENSP00000462408.1:p.His1400CysfsTer20 | |
| NM_000267.3:c.4095_4096insTG , LRG_214t1:c.4095_4096insTG | NP_000258.1:p.His1366CysfsTer20 | |
| NM_001042492.2:c.4095_4096insTG , LRG_214t2:c.4095_4096insTG | NP_001035957.1:p.His1366CysfsTer13 | |
| XM_005257983.1:c.4095_4096insTG | XP_005258040.1:p.His1366CysfsTer13 | |
| XM_005257984.1:c.4095_4096insTG | XP_005258041.1:p.His1366CysfsTer20 | |
| XM_006721922.1:c.4125_4126insTG | XP_006721985.1:p.His1376CysfsTer13 | |
| XM_006721923.2:c.4086_4087insTG | XP_006721986.1:p.His1363CysfsTer13 | |
| XM_006721924.1:c.4125_4126insTG | XP_006721987.1:p.His1376CysfsTer13 | |
| XM_006721925.1:c.4125_4126insTG | XP_006721988.1:p.His1376CysfsTer20 | |
| XM_006721926.2:c.4125_4126insTG | XP_006721989.1:p.His1376CysfsTer13 | |
| XM_006721927.1:c.4125_4126insTG | XP_006721990.1:p.His1376CysfsTer13 | |
| XM_006721928.2:c.4125_4126insTG | XP_006721991.1:p.His1376CysfsTer13 | |
| XM_011524852.1:c.4122_4123insTG | XP_011523154.1:p.His1375CysfsTer13 | |
| XM_011524853.1:c.4086_4087insTG | XP_011523155.1:p.His1363CysfsTer13 | |
| XM_011524854.1:c.4086_4087insTG | XP_011523156.1:p.His1363CysfsTer13 | |
| XM_011524855.1:c.4086_4087insTG | XP_011523157.1:p.His1363CysfsTer13 | |
| XM_011524856.1:c.4086_4087insTG | XP_011523158.1:p.His1363CysfsTer13 | |
| XM_011524857.1:c.4125_4126insTG | XP_011523159.1:p.His1376CysfsTer13 | |
| NM_001042492.3:c.4095_4096insTG MANE Select | NP_001035957.1:p.His1366CysfsTer13 |