Canonical Allele Identifier: CA2637956445
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404682-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404683del , CM000679.2:g.42404683del GRCh38
NC_000017.10:g.40556701del , CM000679.1:g.40556701del GRCh37
NC_000017.9:g.37810227del NCBI36
NG_015845.1:g.23638del
NG_015845.2:g.23638del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*4del MANE Select ENSP00000349541.4:n.*4del
ENST00000357037.5:c.*4del ENSP00000349541.4:n.*4del
NM_012232.5:c.*4del NP_036364.2:n.*4del
NM_012232.6:c.*4del MANE Select NP_036364.2:n.*4del
Search 100 bp 5'
Search 100 bp 3'