Canonical Allele Identifier: CA2260466825
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404810_42404813delinsCTCG , CM000679.2:g.42404810_42404813delinsCTCG GRCh38
NC_000017.10:g.40556828_40556831delinsCTCG , CM000679.1:g.40556828_40556831delinsCTCG GRCh37
NC_000017.9:g.37810354_37810357delinsCTCG NCBI36
NG_015845.1:g.23508_23511delinsCGAG
NG_015845.2:g.23508_23511delinsCGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1047_1050delinsCGAG MANE Select ENSP00000349541.4:p.Asp349=
ENST00000357037.5:c.1047_1050delinsCGAG ENSP00000349541.4:p.Asp349=
NM_012232.5:c.1047_1050delinsCGAG NP_036364.2:p.Asp349=
NM_012232.6:c.1047_1050delinsCGAG MANE Select NP_036364.2:p.Asp349=
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