Canonical Allele Identifier: CA1601616993

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234821_173234822delinsGC , CM000667.2:g.173234821_173234822delinsGC	GRCh38
NC_000005.9:g.172661824_172661825delinsGC , CM000667.1:g.172661824_172661825delinsGC	GRCh37
NC_000005.8:g.172594430_172594431delinsGC	NCBI36
NG_013340.1:g.5491_5492delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.262_263delinsGC MANE Select	ENSP00000327758.4:p.Ala88=
ENST00000329198.4:c.262_263delinsGC	ENSP00000327758.4:p.Ala88=
ENST00000424406.2:c.262_263delinsGC	ENSP00000395378.2:p.Ala88=
ENST00000517440.1:c.262_263delinsGC	ENSP00000429905.1:p.Ala88=
ENST00000521848.1:c.262_263delinsGC	ENSP00000427906.1:p.Ala88=
NM_001166175.1:c.262_263delinsGC	NP_001159647.1:p.Ala88=
NM_001166176.1:c.262_263delinsGC	NP_001159648.1:p.Ala88=
NM_004387.3:c.262_263delinsGC	NP_004378.1:p.Ala88=
XM_017009071.2:c.262_263delinsGC	XP_016864560.1:p.Ala88=
NM_004387.4:c.262_263delinsGC MANE Select	NP_004378.1:p.Ala88=
NM_001166175.2:c.262_263delinsGC	NP_001159647.1:p.Ala88=
NM_001166176.2:c.262_263delinsGC	NP_001159648.1:p.Ala88=