Canonical Allele Identifier: CA014740

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 181104
• ClinVar RCV Id: RCV000158407 ; RCV001850213
• dbSNP Id: rs730880676
• MyVariant Identifiers: chr11:g.47353679_47353693del (hg19) ; chr11:g.47332128_47332142del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332129_47332143del , CM000673.2:g.47332129_47332143del	GRCh38
NC_000011.9:g.47353680_47353694del , CM000673.1:g.47353680_47353694del	GRCh37
NC_000011.8:g.47310256_47310270del	NCBI36
NG_007667.1:g.25561_25575del , LRG_386:g.25561_25575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.3744_3758del MANE Select	ENSP00000442795.1:p.Gly1249_Cys1253del
ENST00000256993.8:c.3744_3758del	ENSP00000256993.5:p.Gly1249_Cys1253del
ENST00000399249.6:c.3744_3758del	ENSP00000382193.2:p.Gly1249_Cys1253del
ENST00000545968.5:c.3744_3758del	ENSP00000442795.1:p.Gly1249_Cys1253del
NM_000256.3:c.3744_3758del , LRG_386t1:c.3744_3758del MANE Select	NP_000247.2:p.Gly1249_Cys1253del
XM_011520117.1:c.3726_3740del	XP_011518419.1:p.Gly1243_Cys1247del
XM_011520118.1:c.3663_3677del	XP_011518420.1:p.Gly1222_Cys1226del