Linked Data
ClinVar Variation Id:
422891
ClinVar RCV Id:
RCV000482314
dbSNP Id:
rs1064796071
gnomAD v4:
7-147395760-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147395761_147395762del , CM000669.2:g.147395761_147395762del | GRCh38 |
| NC_000007.13:g.147092853_147092854del , CM000669.1:g.147092853_147092854del | GRCh37 |
| NC_000007.12:g.146723786_146723787del | NCBI36 |
| NG_007092.2:g.1284401_1284402del | |
| NG_007092.3:g.1284761_1284762del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361727.8:c.1651_1652del MANE Select | ENSP00000354778.3:p.Met551ValfsTer13 | |
| ENST00000636870.1:n.1513_1514del | ||
| ENST00000637694.1:n.1554_1555del | ||
| ENST00000637825.1:n.1134_1135del | ||
| ENST00000638117.1:n.1554_1555del | ||
| ENST00000361727.7:c.1651_1652del | ENSP00000354778.3:p.Met551ValfsTer13 | |
| NM_014141.5:c.1651_1652del | NP_054860.1:p.Met551ValfsTer13 | |
| XM_006715919.1:c.139_140del | XP_006715982.1:p.Met47ValfsTer13 | |
| XM_017011950.2:c.1651_1652del | XP_016867439.1:p.Met551ValfsTer13 | |
| NM_014141.6:c.1651_1652del MANE Select | NP_054860.1:p.Met551ValfsTer13 |