Canonical Allele Identifier: CA2260466814
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404793_42404802delinsCCGCGCTCCG , CM000679.2:g.42404793_42404802delinsCCGCGCTCCG GRCh38
NC_000017.10:g.40556811_40556820delinsCCGCGCTCCG , CM000679.1:g.40556811_40556820delinsCCGCGCTCCG GRCh37
NC_000017.9:g.37810337_37810346delinsCCGCGCTCCG NCBI36
NG_015845.1:g.23519_23528delinsCGGAGCGCGG
NG_015845.2:g.23519_23528delinsCGGAGCGCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1058_1067delinsCGGAGCGCGG MANE Select ENSP00000349541.4:p.Ala353=
ENST00000357037.5:c.1058_1067delinsCGGAGCGCGG ENSP00000349541.4:p.Ala353=
NM_012232.5:c.1058_1067delinsCGGAGCGCGG NP_036364.2:p.Ala353=
NM_012232.6:c.1058_1067delinsCGGAGCGCGG MANE Select NP_036364.2:p.Ala353=
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