Canonical Allele Identifier: CA676999087

Gene: MYBPC3

Linked Data

• dbSNP Id: rs1179112112
• MyVariant Identifiers: chr11:g.47363344_47363345del (hg19) ; chr11:g.47341793_47341794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341794_47341795del , CM000673.2:g.47341794_47341795del	GRCh38
NC_000011.9:g.47363345_47363346del , CM000673.1:g.47363345_47363346del	GRCh37
NC_000011.8:g.47319921_47319922del	NCBI36
NG_007667.1:g.15909_15910del , LRG_386:g.15909_15910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1790+197_1790+198del MANE Select	ENSP00000442795.1:n.1790+197_1790+198del
ENST00000256993.8:c.1790+197_1790+198del	ENSP00000256993.5:n.1790+197_1790+198del
ENST00000399249.6:c.1790+197_1790+198del	ENSP00000382193.2:n.1790+197_1790+198del
ENST00000544791.1:c.1790+197_1790+198del	ENSP00000444259.1:n.1790+197_1790+198del
ENST00000545968.5:c.1790+197_1790+198del	ENSP00000442795.1:n.1790+197_1790+198del
NM_000256.3:c.1790+197_1790+198del , LRG_386t1:c.1790+197_1790+198del MANE Select	NP_000247.2:n.1790+197_1790+198del
XM_011520117.1:c.1772+197_1772+198del	XP_011518419.1:n.1772+197_1772+198del
XM_011520118.1:c.1790+197_1790+198del	XP_011518420.1:n.1790+197_1790+198del