Canonical Allele Identifier: CA2637956285
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404570-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404574del , CM000679.2:g.42404574del GRCh38
NC_000017.10:g.40556592del , CM000679.1:g.40556592del GRCh37
NC_000017.9:g.37810118del NCBI36
NG_015845.1:g.23750del
NG_015845.2:g.23750del

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*116del MANE Select ENSP00000349541.4:n.*116del
ENST00000357037.5:c.*116del ENSP00000349541.4:n.*116del
NM_012232.5:c.*116del NP_036364.2:n.*116del
NM_012232.6:c.*116del MANE Select NP_036364.2:n.*116del
Search 100 bp 5'
Search 100 bp 3'