Canonical Allele Identifier: CA2695205822

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234828_173234829del , CM000667.2:g.173234828_173234829del	GRCh38
NC_000005.9:g.172661831_172661832del , CM000667.1:g.172661831_172661832del	GRCh37
NC_000005.8:g.172594437_172594438del	NCBI36
NG_013340.1:g.5484_5485del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.255_256del MANE Select	ENSP00000327758.4:p.Phe86SerfsTer21
ENST00000329198.4:c.255_256del	ENSP00000327758.4:p.Phe86SerfsTer21
ENST00000424406.2:c.255_256del	ENSP00000395378.2:p.Phe86SerfsTer21
ENST00000517440.1:c.255_256del	ENSP00000429905.1:p.Phe86SerfsTer21
ENST00000521848.1:c.255_256del	ENSP00000427906.1:p.Phe86SerfsTer21
NM_001166175.1:c.255_256del	NP_001159647.1:p.Phe86SerfsTer21
NM_001166176.1:c.255_256del	NP_001159648.1:p.Phe86SerfsTer21
NM_004387.3:c.255_256del	NP_004378.1:p.Phe86SerfsTer21
XM_017009071.2:c.255_256del	XP_016864560.1:p.Phe86SerfsTer21
NM_004387.4:c.255_256del MANE Select	NP_004378.1:p.Phe86SerfsTer21
NM_001166175.2:c.255_256del	NP_001159647.1:p.Phe86SerfsTer21
NM_001166176.2:c.255_256del	NP_001159648.1:p.Phe86SerfsTer21