Canonical Allele Identifier: CA676999094

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1256461546
• gnomAD v3: 11-47341819-GGTCT-G
• gnomAD v4: 11-47341819-GGTCT-G
• MyVariant Identifiers: chr11:g.47363371_47363374del (hg19) ; chr11:g.47341820_47341823del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341826_47341829del , CM000673.2:g.47341826_47341829del	GRCh38
NC_000011.9:g.47363377_47363380del , CM000673.1:g.47363377_47363380del	GRCh37
NC_000011.8:g.47319953_47319956del	NCBI36
NG_007667.1:g.15880_15883del , LRG_386:g.15880_15883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+168_1790+171del MANE Select	ENSP00000442795.1:n.1790+168_1790+171del
ENST00000256993.8:c.1790+168_1790+171del	ENSP00000256993.5:n.1790+168_1790+171del
ENST00000399249.6:c.1790+168_1790+171del	ENSP00000382193.2:n.1790+168_1790+171del
ENST00000544791.1:c.1790+168_1790+171del	ENSP00000444259.1:n.1790+168_1790+171del
ENST00000545968.5:c.1790+168_1790+171del	ENSP00000442795.1:n.1790+168_1790+171del
NM_000256.3:c.1790+168_1790+171del , LRG_386t1:c.1790+168_1790+171del MANE Select	NP_000247.2:n.1790+168_1790+171del
XM_011520117.1:c.1772+168_1772+171del	XP_011518419.1:n.1772+168_1772+171del
XM_011520118.1:c.1790+168_1790+171del	XP_011518420.1:n.1790+168_1790+171del