Canonical Allele Identifier: CA1969334106

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47332583_47332593delinsCAGCACAGCAG , CM000673.2:g.47332583_47332593delinsCAGCACAGCAG	GRCh38
NC_000011.9:g.47354134_47354144delinsCAGCACAGCAG , CM000673.1:g.47354134_47354144delinsCAGCACAGCAG	GRCh37
NC_000011.8:g.47310710_47310720delinsCAGCACAGCAG	NCBI36
NG_007667.1:g.25110_25120delinsCTGCTGTGCTG , LRG_386:g.25110_25120delinsCTGCTGTGCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000545968.6:c.3600_3610delinsCTGCTGTGCTG MANE Select	ENSP00000442795.1:p.Leu1200=
ENST00000256993.8:c.3600_3610delinsCTGCTGTGCTG	ENSP00000256993.5:p.Leu1200=
ENST00000399249.6:c.3600_3610delinsCTGCTGTGCTG	ENSP00000382193.2:p.Leu1200=
ENST00000545968.5:c.3600_3610delinsCTGCTGTGCTG	ENSP00000442795.1:p.Leu1200=
NM_000256.3:c.3600_3610delinsCTGCTGTGCTG , LRG_386t1:c.3600_3610delinsCTGCTGTGCTG MANE Select	NP_000247.2:p.Leu1200=
XM_011520117.1:c.3582_3592delinsCTGCTGTGCTG	XP_011518419.1:p.Leu1194=
XM_011520118.1:c.3519_3529delinsCTGCTGTGCTG	XP_011518420.1:p.Leu1173=