Linked Data
ClinVar Variation Id:
520752
dbSNP Id:
rs1429181351
gnomAD v2:
12-102158734-CTA-C
gnomAD v4:
12-101764956-CTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101764957_101764958del , CM000674.2:g.101764957_101764958del | GRCh38 |
| NC_000012.11:g.102158735_102158736del , CM000674.1:g.102158735_102158736del | GRCh37 |
| NC_000012.10:g.100682866_100682867del | NCBI36 |
| NG_021243.1:g.70910_70911del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1959_1960del MANE Select | ENSP00000299314.7:p.Pro655HisfsTer12 | |
| ENST00000299314.11:c.1959_1960del | ENSP00000299314.7:p.Pro655HisfsTer12 | |
| NM_024312.4:c.1959_1960del | NP_077288.2:p.Pro655HisfsTer12 | |
| XM_006719593.2:c.1959_1960del | XP_006719656.1:p.Pro655HisfsTer12 | |
| XM_011538731.1:c.1878_1879del | XP_011537033.1:p.Pro628HisfsTer12 | |
| XM_006719593.3:c.1959_1960del | XP_006719656.1:p.Pro655HisfsTer12 | |
| XM_011538731.2:c.1878_1879del | XP_011537033.1:p.Pro628HisfsTer12 | |
| XM_017019961.1:c.1743_1744del | XP_016875450.1:p.Pro583HisfsTer12 | |
| XM_017019962.2:c.732_733del | XP_016875451.1:p.Pro246HisfsTer12 | |
| NM_024312.5:c.1959_1960del MANE Select | NP_077288.2:p.Pro655HisfsTer12 |