Linked Data
ClinVar Variation Id:
374348
ClinVar RCV Id:
RCV000414842
dbSNP Id:
rs1057518715
gnomAD v2:
9-139571405-ACACT-A
gnomAD v4:
9-136676953-ACACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136676957_136676960del , CM000671.2:g.136676957_136676960del | GRCh38 |
| NC_000009.11:g.139571409_139571412del , CM000671.1:g.139571409_139571412del | GRCh37 |
| NC_000009.10:g.138691230_138691233del | NCBI36 |
| NG_008090.1:g.15503_15506del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371696.7:c.492+4_492+7del MANE Select | ENSP00000360761.2:n.492+4_492+7del | |
| ENST00000371694.7:c.492+4_492+7del | ENSP00000360759.3:n.492+4_492+7del | |
| ENST00000371696.6:c.492+4_492+7del | ENSP00000360761.2:n.492+4_492+7del | |
| ENST00000472820.1:n.420+4_420+7del | ||
| ENST00000538402.1:c.492+4_492+7del | ENSP00000438919.1:n.492+4_492+7del | |
| NM_001012727.1:c.492+4_492+7del | NP_001012745.1:n.492+4_492+7del | |
| NM_006412.3:c.492+4_492+7del | NP_006403.2:n.492+4_492+7del | |
| NM_006412.4:c.492+4_492+7del MANE Select | NP_006403.2:n.492+4_492+7del | |
| NM_001012727.2:c.492+4_492+7del | NP_001012745.1:n.492+4_492+7del |