Canonical Allele Identifier: CA2260466758
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404704_42404732delinsTGTCCACCAGCACGGCGTCCGACTCCTCG , CM000679.2:g.42404704_42404732delinsTGTCCACCAGCACGGCGTCCGACTCCTCG GRCh38
NC_000017.10:g.40556722_40556750delinsTGTCCACCAGCACGGCGTCCGACTCCTCG , CM000679.1:g.40556722_40556750delinsTGTCCACCAGCACGGCGTCCGACTCCTCG GRCh37
NC_000017.9:g.37810248_37810276delinsTGTCCACCAGCACGGCGTCCGACTCCTCG NCBI36
NG_015845.1:g.23589_23617delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA
NG_015845.2:g.23589_23617delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA MANE Select ENSP00000349541.4:p.Thr376=
ENST00000357037.5:c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA ENSP00000349541.4:p.Thr376=
NM_012232.5:c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA NP_036364.2:p.Thr376=
NM_012232.6:c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA MANE Select NP_036364.2:p.Thr376=
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