Canonical Allele Identifier: CA2613398199

Gene: MYBPC3

Linked Data

• gnomAD v4: 11-47341160-C-CTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47341160_47341161insTTTTTA , CM000673.2:g.47341160_47341161insTTTTTA	GRCh38
NC_000011.9:g.47362711_47362712insTTTTTA , CM000673.1:g.47362711_47362712insTTTTTA	GRCh37
NC_000011.8:g.47319287_47319288insTTTTTA	NCBI36
NG_007667.1:g.16542_16543insTAAAAA , LRG_386:g.16542_16543insTAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.1874_1875insTAAAAA MANE Select	ENSP00000442795.1:p.Leu625_Ser626insLysLys
ENST00000256993.8:c.1874_1875insTAAAAA	ENSP00000256993.5:p.Leu625_Ser626insLysLys
ENST00000399249.6:c.1874_1875insTAAAAA	ENSP00000382193.2:p.Leu625_Ser626insLysLys
ENST00000544791.1:c.1874_1875insTAAAAA	ENSP00000444259.1:p.Leu625_Ser626insLysLys
ENST00000545968.5:c.1874_1875insTAAAAA	ENSP00000442795.1:p.Leu625_Ser626insLysLys
NM_000256.3:c.1874_1875insTAAAAA , LRG_386t1:c.1874_1875insTAAAAA MANE Select	NP_000247.2:p.Leu625_Ser626insLysLys
XM_011520117.1:c.1856_1857insTAAAAA	XP_011518419.1:p.Leu619_Ser620insLysLys
XM_011520118.1:c.1874_1875insTAAAAA	XP_011518420.1:p.Leu625_Ser626insLysLys