Canonical Allele Identifier: CA599374387

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1266507621
• gnomAD v2: 11-47363460-CTCTCTCTCTGTTTCTCCCTGTG-C
• gnomAD v3: 11-47341909-CTCTCTCTCTGTTTCTCCCTGTG-C
• gnomAD v4: 11-47341909-CTCTCTCTCTGTTTCTCCCTGTG-C
• MyVariant Identifiers: chr11:g.47363461_47363482del (hg19) ; chr11:g.47341910_47341931del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341921_47341942del , CM000673.2:g.47341921_47341942del	GRCh38
NC_000011.9:g.47363472_47363493del , CM000673.1:g.47363472_47363493del	GRCh37
NC_000011.8:g.47320048_47320069del	NCBI36
NG_007667.1:g.15772_15793del , LRG_386:g.15772_15793del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+60_1790+81del MANE Select	ENSP00000442795.1:n.1790+60_1790+81del
ENST00000256993.8:c.1790+60_1790+81del	ENSP00000256993.5:n.1790+60_1790+81del
ENST00000399249.6:c.1790+60_1790+81del	ENSP00000382193.2:n.1790+60_1790+81del
ENST00000544791.1:c.1790+60_1790+81del	ENSP00000444259.1:n.1790+60_1790+81del
ENST00000545968.5:c.1790+60_1790+81del	ENSP00000442795.1:n.1790+60_1790+81del
NM_000256.3:c.1790+60_1790+81del , LRG_386t1:c.1790+60_1790+81del MANE Select	NP_000247.2:n.1790+60_1790+81del
XM_011520117.1:c.1772+60_1772+81del	XP_011518419.1:n.1772+60_1772+81del
XM_011520118.1:c.1790+60_1790+81del	XP_011518420.1:n.1790+60_1790+81del