Canonical Allele Identifier: CA1969336949

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343253_47343257delinsAACTT , CM000673.2:g.47343253_47343257delinsAACTT	GRCh38
NC_000011.9:g.47364804_47364808delinsAACTT , CM000673.1:g.47364804_47364808delinsAACTT	GRCh37
NC_000011.8:g.47321380_47321384delinsAACTT	NCBI36
NG_007667.1:g.14446_14450delinsAAGTT , LRG_386:g.14446_14450delinsAAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1226+3_1226+7delinsAAGTT MANE Select	ENSP00000442795.1:n.1226+3_1226+7delinsAAGTT
ENST00000256993.8:c.1224-109_1224-105delinsAAGTT	ENSP00000256993.5:n.1224-109_1224-105delinsAAGTT
ENST00000399249.6:c.1226+3_1226+7delinsAAGTT	ENSP00000382193.2:n.1226+3_1226+7delinsAAGTT
ENST00000544791.1:c.1226+3_1226+7delinsAAGTT	ENSP00000444259.1:n.1226+3_1226+7delinsAAGTT
ENST00000545968.5:c.1226+3_1226+7delinsAAGTT	ENSP00000442795.1:n.1226+3_1226+7delinsAAGTT
NM_000256.3:c.1226+3_1226+7delinsAAGTT , LRG_386t1:c.1226+3_1226+7delinsAAGTT MANE Select	NP_000247.2:n.1226+3_1226+7delinsAAGTT
XM_011520117.1:c.1208+3_1208+7delinsAAGTT	XP_011518419.1:n.1208+3_1208+7delinsAAGTT
XM_011520118.1:c.1226+3_1226+7delinsAAGTT	XP_011518420.1:n.1226+3_1226+7delinsAAGTT