Canonical Allele Identifier: CA2838210968

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234753dup , CM000667.2:g.173234753dup	GRCh38
NC_000005.9:g.172661756dup , CM000667.1:g.172661756dup	GRCh37
NC_000005.8:g.172594362dup	NCBI36
NG_013340.1:g.5562dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.333dup MANE Select	ENSP00000327758.4:p.Glu112ArgfsTer?
ENST00000329198.4:c.333dup	ENSP00000327758.4:p.Glu112ArgfsTer?
ENST00000424406.2:c.333dup	ENSP00000395378.2:p.Ala112SerfsTer5
ENST00000517440.1:c.333dup	ENSP00000429905.1:p.Ala112SerfsTer18
ENST00000521848.1:c.333dup	ENSP00000427906.1:p.Gly112ArgfsTer3
NM_001166175.1:c.333dup	NP_001159647.1:p.Ala112SerfsTer5
NM_001166176.1:c.333dup	NP_001159648.1:p.Gly112ArgfsTer3
NM_004387.3:c.333dup	NP_004378.1:p.Glu112ArgfsTer?
XM_017009071.2:c.333dup	XP_016864560.1:p.Ala112SerfsTer18
NM_004387.4:c.333dup MANE Select	NP_004378.1:p.Glu112ArgfsTer?
NM_001166175.2:c.333dup	NP_001159647.1:p.Ala112SerfsTer5
NM_001166176.2:c.333dup	NP_001159648.1:p.Gly112ArgfsTer3