UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
216135
ClinVar RCV Id:
RCV000200756
dbSNP Id:
rs863224528
gnomAD v4:
6-51868035-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51868036dup , CM000668.2:g.51868036dup | GRCh38 |
| NC_000006.11:g.51732834dup , CM000668.1:g.51732834dup | GRCh37 |
| NC_000006.10:g.51840793dup | NCBI36 |
| NG_008753.1:g.224590dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.7560dup MANE Select | ENSP00000360158.3:p.Ala2521CysfsTer? | |
| ENST00000340994.4:c.7560dup | ENSP00000341097.4:p.Ala2521CysfsTer? | |
| ENST00000371117.7:c.7560dup | ENSP00000360158.3:p.Ala2521CysfsTer? | |
| NM_138694.3:c.7560dup | NP_619639.3:p.Ala2521CysfsTer? | |
| NM_170724.2:c.7560dup | NP_733842.2:p.Ala2521CysfsTer? | |
| XM_011514679.1:c.7560dup | XP_011512981.1:p.Ala2521CysfsTer? | |
| XM_011514680.1:c.7560dup | XP_011512982.1:p.Ala2521CysfsTer? | |
| XM_011514681.1:c.7560dup | XP_011512983.1:p.Ala2521CysfsTer? | |
| XM_011514682.1:c.7560dup | XP_011512984.1:p.Ala2521CysfsTer? | |
| XM_011514683.1:c.6918dup | XP_011512985.1:p.Ala2307CysfsTer? | |
| XM_011514684.1:c.6849dup | XP_011512986.1:p.Ala2284CysfsTer? | |
| XM_011514685.1:c.7560dup | XP_011512987.1:p.Ala2521CysfsTer? | |
| XM_011514686.1:c.7560dup | XP_011512988.1:p.Ala2521CysfsTer? | |
| XM_011514687.1:c.7560dup | XP_011512989.1:p.Ala2521CysfsTer? | |
| XM_011514688.1:c.7560dup | XP_011512990.1:p.Ala2521CysfsTer? | |
| XM_011514689.1:c.7560dup | XP_011512991.1:p.Ala2521CysfsTer? | |
| XM_011514690.1:c.1635dup | XP_011512992.1:p.Ala546CysfsTer? | |
| XM_011514691.1:c.1635dup | XP_011512993.1:p.Ala546CysfsTer? | |
| XM_011514680.3:c.7560dup | XP_011512982.1:p.Ala2521CysfsTer? | |
| XM_011514682.3:c.7560dup | XP_011512984.1:p.Ala2521CysfsTer? | |
| XM_011514683.3:c.6918dup | XP_011512985.1:p.Ala2307CysfsTer? | |
| XM_011514684.3:c.6849dup | XP_011512986.1:p.Ala2284CysfsTer? | |
| XM_011514686.2:c.7560dup | XP_011512988.1:p.Ala2521CysfsTer? | |
| XM_011514688.2:c.7560dup | XP_011512990.1:p.Ala2521CysfsTer? | |
| XM_011514690.3:c.1635dup | XP_011512992.1:p.Ala546CysfsTer? | |
| XM_011514691.3:c.1635dup | XP_011512993.1:p.Ala546CysfsTer? | |
| XM_017010944.2:c.7560dup | XP_016866433.1:p.Ala2521CysfsTer? | |
| XM_017010945.2:c.7485dup | XP_016866434.1:p.Ala2496CysfsTer? | |
| XM_017010946.2:c.7560dup | XP_016866435.1:p.Ala2521CysfsTer? | |
| XM_017010947.2:c.7296dup | XP_016866436.1:p.Ala2433CysfsTer? | |
| XM_017010948.2:c.6849dup | XP_016866437.1:p.Ala2284CysfsTer? | |
| XM_017010949.2:c.5700dup | XP_016866438.1:p.Ala1901CysfsTer? | |
| XM_017010950.1:c.7560dup | XP_016866439.1:p.Ala2521CysfsTer? | |
| XM_017010951.1:c.7560dup | XP_016866440.1:p.Ala2521CysfsTer? | |
| XM_017010952.1:c.7560dup | XP_016866441.1:p.Ala2521CysfsTer? | |
| XR_001743469.1:n.7836dup | ||
| NM_138694.4:c.7560dup MANE Select | NP_619639.3:p.Ala2521CysfsTer? | |
| NM_170724.3:c.7560dup | NP_733842.2:p.Ala2521CysfsTer? |