Canonical Allele Identifier: CA2573147072
Gene: MYBPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1515514
ClinVar RCV Id: RCV002021156
dbSNP Id: rs2142861940

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47343254_47343582delinsT , CM000673.2:g.47343254_47343582delinsT GRCh38
NC_000011.9:g.47364805_47365133delinsT , CM000673.1:g.47364805_47365133delinsT GRCh37
NC_000011.8:g.47321381_47321709delinsT NCBI36
NG_007667.1:g.14121_14449delinsA , LRG_386:g.14121_14449delinsA

Transcript Alleles

HGVS Amino-acid Change
ENST00000545968.6:c.1133_1226+6delinsA
ENST00000256993.8:c.1133_1224-106delinsA
ENST00000399249.6:c.1133_1226+6delinsA
ENST00000544791.1:c.1133_1226+6delinsA
ENST00000545968.5:c.1133_1226+6delinsA
NM_000256.3:c.1133_1226+6delinsA , LRG_386t1:c.1133_1226+6delinsA
XM_011520117.1:c.1115_1208+6delinsA
XM_011520118.1:c.1133_1226+6delinsA