Canonical Allele Identifier: CA1139661935

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 941281
• ClinVar RCV Id: RCV001211037
• dbSNP Id: rs2095890510

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47342933_47342938del , CM000673.2:g.47342933_47342938del	GRCh38
NC_000011.9:g.47364484_47364489del , CM000673.1:g.47364484_47364489del	GRCh37
NC_000011.8:g.47321060_47321065del	NCBI36
NG_007667.1:g.14766_14771del , LRG_386:g.14766_14771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1352-2_1355del
ENST00000256993.8:c.1352-2_1355del
ENST00000399249.6:c.1352-2_1355del
ENST00000544791.1:c.1352-2_1355del
ENST00000545968.5:c.1352-2_1355del
NM_000256.3:c.1352-2_1355del , LRG_386t1:c.1352-2_1355del
XM_011520117.1:c.1334-2_1337del
XM_011520118.1:c.1352-2_1355del