Canonical Allele Identifier: CA1601617016

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234854_173234856delinsGGC , CM000667.2:g.173234854_173234856delinsGGC	GRCh38
NC_000005.9:g.172661857_172661859delinsGGC , CM000667.1:g.172661857_172661859delinsGGC	GRCh37
NC_000005.8:g.172594463_172594465delinsGGC	NCBI36
NG_013340.1:g.5457_5459delinsGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.228_230delinsGCC MANE Select	ENSP00000327758.4:p.Ala76=
ENST00000329198.4:c.228_230delinsGCC	ENSP00000327758.4:p.Ala76=
ENST00000424406.2:c.228_230delinsGCC	ENSP00000395378.2:p.Ala76=
ENST00000517440.1:c.228_230delinsGCC	ENSP00000429905.1:p.Ala76=
ENST00000521848.1:c.228_230delinsGCC	ENSP00000427906.1:p.Ala76=
NM_001166175.1:c.228_230delinsGCC	NP_001159647.1:p.Ala76=
NM_001166176.1:c.228_230delinsGCC	NP_001159648.1:p.Ala76=
NM_004387.3:c.228_230delinsGCC	NP_004378.1:p.Ala76=
XM_017009071.2:c.228_230delinsGCC	XP_016864560.1:p.Ala76=
NM_004387.4:c.228_230delinsGCC MANE Select	NP_004378.1:p.Ala76=
NM_001166175.2:c.228_230delinsGCC	NP_001159647.1:p.Ala76=
NM_001166176.2:c.228_230delinsGCC	NP_001159648.1:p.Ala76=