Canonical Allele Identifier: CA1969333440

Gene: MYBPC3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47339717_47339718delinsTA , CM000673.2:g.47339717_47339718delinsTA	GRCh38
NC_000011.9:g.47361268_47361269delinsTA , CM000673.1:g.47361268_47361269delinsTA	GRCh37
NC_000011.8:g.47317844_47317845delinsTA	NCBI36
NG_007667.1:g.17985_17986delinsTA , LRG_386:g.17985_17986delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545968.6:c.2000_2001delinsTA MANE Select	ENSP00000442795.1:p.Leu667=
ENST00000256993.8:c.2000_2001delinsTA	ENSP00000256993.5:p.Leu667=
ENST00000399249.6:c.2000_2001delinsTA	ENSP00000382193.2:p.Leu667=
ENST00000544791.1:c.2000_2001delinsTA	ENSP00000444259.1:p.Leu667=
ENST00000545968.5:c.2000_2001delinsTA	ENSP00000442795.1:p.Leu667=
NM_000256.3:c.2000_2001delinsTA , LRG_386t1:c.2000_2001delinsTA MANE Select	NP_000247.2:p.Leu667=
XM_011520117.1:c.1982_1983delinsTA	XP_011518419.1:p.Leu661=
XM_011520118.1:c.2000_2001delinsTA	XP_011518420.1:p.Leu667=