Canonical Allele Identifier: CA2697548584

Gene: MYBPC3

Linked Data

• ClinVar Variation Id: 2744882
• ClinVar RCV Id: RCV003587576

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47343616_47343618del , CM000673.2:g.47343616_47343618del	GRCh38
NC_000011.9:g.47365167_47365169del , CM000673.1:g.47365167_47365169del	GRCh37
NC_000011.8:g.47321743_47321745del	NCBI36
NG_007667.1:g.14090_14092del , LRG_386:g.14090_14092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1102_1104del MANE Select	ENSP00000442795.1:p.Lys368del
ENST00000256993.8:c.1102_1104del	ENSP00000256993.5:p.Lys368del
ENST00000399249.6:c.1102_1104del	ENSP00000382193.2:p.Lys368del
ENST00000544791.1:c.1102_1104del	ENSP00000444259.1:p.Lys368del
ENST00000545968.5:c.1102_1104del	ENSP00000442795.1:p.Lys368del
NM_000256.3:c.1102_1104del , LRG_386t1:c.1102_1104del MANE Select	NP_000247.2:p.Lys368del
XM_011520117.1:c.1084_1086del	XP_011518419.1:p.Lys362del
XM_011520118.1:c.1102_1104del	XP_011518420.1:p.Lys368del