Canonical Allele Identifier: CA937670151

Gene: MYBPC3

Linked Data

• dbSNP Id: rs2095886724
• gnomAD v3: 11-47339957-AATACACCC-A
• gnomAD v4: 11-47339957-AATACACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339960_47339967del , CM000673.2:g.47339960_47339967del	GRCh38
NC_000011.9:g.47361511_47361518del , CM000673.1:g.47361511_47361518del	GRCh37
NC_000011.8:g.47318087_47318094del	NCBI36
NG_007667.1:g.17738_17745del , LRG_386:g.17738_17745del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1928-175_1928-168del MANE Select	ENSP00000442795.1:n.1928-175_1928-168del
ENST00000256993.8:c.1928-175_1928-168del	ENSP00000256993.5:n.1928-175_1928-168del
ENST00000399249.6:c.1928-175_1928-168del	ENSP00000382193.2:n.1928-175_1928-168del
ENST00000544791.1:c.1928-175_1928-168del	ENSP00000444259.1:n.1928-175_1928-168del
ENST00000545968.5:c.1928-175_1928-168del	ENSP00000442795.1:n.1928-175_1928-168del
NM_000256.3:c.1928-175_1928-168del , LRG_386t1:c.1928-175_1928-168del MANE Select	NP_000247.2:n.1928-175_1928-168del
XM_011520117.1:c.1910-175_1910-168del	XP_011518419.1:n.1910-175_1910-168del
XM_011520118.1:c.1928-175_1928-168del	XP_011518420.1:n.1928-175_1928-168del