Canonical Allele Identifier: CA2260466785
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404746_42404747delinsGC , CM000679.2:g.42404746_42404747delinsGC GRCh38
NC_000017.10:g.40556764_40556765delinsGC , CM000679.1:g.40556764_40556765delinsGC GRCh37
NC_000017.9:g.37810290_37810291delinsGC NCBI36
NG_015845.1:g.23574_23575delinsGC
NG_015845.2:g.23574_23575delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1113_1114delinsGC MANE Select ENSP00000349541.4:p.Ala371=
ENST00000357037.5:c.1113_1114delinsGC ENSP00000349541.4:p.Ala371=
NM_012232.5:c.1113_1114delinsGC NP_036364.2:p.Ala371=
NM_012232.6:c.1113_1114delinsGC MANE Select NP_036364.2:p.Ala371=
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