Canonical Allele Identifier: CA8575758
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 917427
ClinVar RCV Id: RCV001174404
dbSNP Id: rs767832643

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404820_42404822del , CM000679.2:g.42404820_42404822del GRCh38
NC_000017.10:g.40556838_40556840del , CM000679.1:g.40556838_40556840del GRCh37
NC_000017.9:g.37810364_37810366del NCBI36
NG_015845.1:g.23508_23510del
NG_015845.2:g.23508_23510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1047_1049del MANE Select ENSP00000349541.4:p.Asp349del
ENST00000357037.5:c.1047_1049del ENSP00000349541.4:p.Asp349del
NM_012232.5:c.1047_1049del NP_036364.2:p.Asp349del
NM_012232.6:c.1047_1049del MANE Select NP_036364.2:p.Asp349del