Canonical Allele Identifier: CA1969336862

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343158_47343169delinsCGCAGGGAAGTG , CM000673.2:g.47343158_47343169delinsCGCAGGGAAGTG	GRCh38
NC_000011.9:g.47364709_47364720delinsCGCAGGGAAGTG , CM000673.1:g.47364709_47364720delinsCGCAGGGAAGTG	GRCh37
NC_000011.8:g.47321285_47321296delinsCGCAGGGAAGTG	NCBI36
NG_007667.1:g.14534_14545delinsCACTTCCCTGCG , LRG_386:g.14534_14545delinsCACTTCCCTGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1227-24_1227-13delinsCACTTCCCTGCG MANE Select	ENSP00000442795.1:n.1227-24_1227-13delinsCACTTCCCTGCG
ENST00000256993.8:c.1224-21_1224-10delinsCACTTCCCTGCG	ENSP00000256993.5:n.1224-21_1224-10delinsCACTTCCCTGCG
ENST00000399249.6:c.1227-24_1227-13delinsCACTTCCCTGCG	ENSP00000382193.2:n.1227-24_1227-13delinsCACTTCCCTGCG
ENST00000544791.1:c.1227-24_1227-13delinsCACTTCCCTGCG	ENSP00000444259.1:n.1227-24_1227-13delinsCACTTCCCTGCG
ENST00000545968.5:c.1227-24_1227-13delinsCACTTCCCTGCG	ENSP00000442795.1:n.1227-24_1227-13delinsCACTTCCCTGCG
NM_000256.3:c.1227-24_1227-13delinsCACTTCCCTGCG , LRG_386t1:c.1227-24_1227-13delinsCACTTCCCTGCG MANE Select	NP_000247.2:n.1227-24_1227-13delinsCACTTCCCTGCG
XM_011520117.1:c.1209-24_1209-13delinsCACTTCCCTGCG	XP_011518419.1:n.1209-24_1209-13delinsCACTTCCCTGCG
XM_011520118.1:c.1227-24_1227-13delinsCACTTCCCTGCG	XP_011518420.1:n.1227-24_1227-13delinsCACTTCCCTGCG