Linked Data
dbSNP Id:
rs58625015
gnomAD v2:
8-38004299-TTA-T
gnomAD v3:
8-38146781-TTA-T
gnomAD v4:
8-38146781-TTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146797_38146798del , CM000670.2:g.38146797_38146798del | GRCh38 |
| NC_000008.10:g.38004315_38004316del , CM000670.1:g.38004315_38004316del | GRCh37 |
| NC_000008.9:g.38123472_38123473del | NCBI36 |
| NG_011827.1:g.9300_9301del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.307-336_307-335del MANE Select | ENSP00000276449.3:n.307-336_307-335del | |
| ENST00000276449.8:c.307-336_307-335del | ENSP00000276449.3:n.307-336_307-335del | |
| ENST00000520114.1:n.794-336_794-335del | ||
| ENST00000521236.1:c.61-336_61-335del | ENSP00000430030.1:n.61-336_61-335del | |
| ENST00000522050.1:c.243-336_243-335del | ||
| NM_000349.2:c.307-336_307-335del | NP_000340.2:n.307-336_307-335del | |
| XM_006716392.1:c.307-336_307-335del | XP_006716455.1:n.307-336_307-335del | |
| NM_000349.3:c.307-336_307-335del MANE Select | NP_000340.2:n.307-336_307-335del |