Canonical Allele Identifier: CA2580615695
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099155
ClinVar RCV Id: RCV003021574

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47342934_47342937dup , CM000673.2:g.47342934_47342937dup GRCh38
NC_000011.9:g.47364485_47364488dup , CM000673.1:g.47364485_47364488dup GRCh37
NC_000011.8:g.47321061_47321064dup NCBI36
NG_007667.1:g.14766_14769dup , LRG_386:g.14766_14769dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1352-2_1353dup
ENST00000256993.8:c.1352-2_1353dup
ENST00000399249.6:c.1352-2_1353dup
ENST00000544791.1:c.1352-2_1353dup
ENST00000545968.5:c.1352-2_1353dup
NM_000256.3:c.1352-2_1353dup , LRG_386t1:c.1352-2_1353dup
XM_011520117.1:c.1334-2_1335dup
XM_011520118.1:c.1352-2_1353dup