Canonical Allele Identifier: CA2260466068
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403112G= , CM000679.2:g.42403112G= GRCh38
NC_000017.10:g.40555130G= , CM000679.1:g.40555130G= GRCh37
NC_000017.9:g.37808656G= NCBI36
NG_015845.1:g.25209C=
NG_015845.2:g.25209C=

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1575C= MANE Select ENSP00000349541.4:n.*1575C=
ENST00000357037.5:c.*1575C= ENSP00000349541.4:n.*1575C=
NM_012232.5:c.*1575C= NP_036364.2:n.*1575C=
NM_012232.6:c.*1575C= MANE Select NP_036364.2:n.*1575C=
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