Canonical Allele Identifier: CA2260466828
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404816G= , CM000679.2:g.42404816G= GRCh38
NC_000017.10:g.40556834G= , CM000679.1:g.40556834G= GRCh37
NC_000017.9:g.37810360G= NCBI36
NG_015845.1:g.23505C=
NG_015845.2:g.23505C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1044C= MANE Select ENSP00000349541.4:p.Asp348=
ENST00000357037.5:c.1044C= ENSP00000349541.4:p.Asp348=
NM_012232.5:c.1044C= NP_036364.2:p.Asp348=
NM_012232.6:c.1044C= MANE Select NP_036364.2:p.Asp348=
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