Canonical Allele Identifier: CA2637956436
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404677del , CM000679.2:g.42404677del GRCh38
NC_000017.10:g.40556695del , CM000679.1:g.40556695del GRCh37
NC_000017.9:g.37810221del NCBI36
NG_015845.1:g.23644del
NG_015845.2:g.23644del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*10del MANE Select ENSP00000349541.4:n.*10del
ENST00000357037.5:c.*10del ENSP00000349541.4:n.*10del
NM_012232.5:c.*10del NP_036364.2:n.*10del
NM_012232.6:c.*10del MANE Select NP_036364.2:n.*10del