Canonical Allele Identifier: CA1601617050

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234920_173234937delinsGCCTCTGGCTTGAAGGCG , CM000667.2:g.173234920_173234937delinsGCCTCTGGCTTGAAGGCG	GRCh38
NC_000005.9:g.172661923_172661940delinsGCCTCTGGCTTGAAGGCG , CM000667.1:g.172661923_172661940delinsGCCTCTGGCTTGAAGGCG	GRCh37
NC_000005.8:g.172594529_172594546delinsGCCTCTGGCTTGAAGGCG	NCBI36
NG_013340.1:g.5376_5393delinsCGCCTTCAAGCCAGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.147_164delinsCGCCTTCAAGCCAGAGGC MANE Select	ENSP00000327758.4:p.Ala49=
ENST00000329198.4:c.147_164delinsCGCCTTCAAGCCAGAGGC	ENSP00000327758.4:p.Ala49=
ENST00000424406.2:c.147_164delinsCGCCTTCAAGCCAGAGGC	ENSP00000395378.2:p.Ala49=
ENST00000517440.1:c.147_164delinsCGCCTTCAAGCCAGAGGC	ENSP00000429905.1:p.Ala49=
ENST00000521848.1:c.147_164delinsCGCCTTCAAGCCAGAGGC	ENSP00000427906.1:p.Ala49=
NM_001166175.1:c.147_164delinsCGCCTTCAAGCCAGAGGC	NP_001159647.1:p.Ala49=
NM_001166176.1:c.147_164delinsCGCCTTCAAGCCAGAGGC	NP_001159648.1:p.Ala49=
NM_004387.3:c.147_164delinsCGCCTTCAAGCCAGAGGC	NP_004378.1:p.Ala49=
XM_017009071.2:c.147_164delinsCGCCTTCAAGCCAGAGGC	XP_016864560.1:p.Ala49=
NM_004387.4:c.147_164delinsCGCCTTCAAGCCAGAGGC MANE Select	NP_004378.1:p.Ala49=
NM_001166175.2:c.147_164delinsCGCCTTCAAGCCAGAGGC	NP_001159647.1:p.Ala49=
NM_001166176.2:c.147_164delinsCGCCTTCAAGCCAGAGGC	NP_001159648.1:p.Ala49=