Canonical Allele Identifier: CA212911

Gene: NKX2-5

Linked Data

• ClinVar Variation Id: 9013
• ClinVar RCV Id: RCV000009578
• dbSNP Id: rs606231359
• MyVariant Identifiers: chr5:g.172661858_172661859del (hg19) ; chr5:g.173234855_173234856del (hg38)
• PubMed: PMID:12414819

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234860_173234861del , CM000667.2:g.173234860_173234861del	GRCh38
NC_000005.9:g.172661863_172661864del , CM000667.1:g.172661863_172661864del	GRCh37
NC_000005.8:g.172594469_172594470del	NCBI36
NG_013340.1:g.5457_5458del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.228_229del MANE Select	ENSP00000327758.4:p.Pro77PhefsTer?
ENST00000329198.4:c.228_229del	ENSP00000327758.4:p.Pro77PhefsTer?
ENST00000424406.2:c.228_229del	ENSP00000395378.2:p.Pro77PhefsTer?
ENST00000517440.1:c.228_229del	ENSP00000429905.1:p.Pro77PhefsTer?
ENST00000521848.1:c.228_229del	ENSP00000427906.1:p.Pro77PhefsTer?
NM_001166175.1:c.228_229del	NP_001159647.1:p.Pro77PhefsTer?
NM_001166176.1:c.228_229del	NP_001159648.1:p.Pro77PhefsTer?
NM_004387.3:c.228_229del	NP_004378.1:p.Pro77PhefsTer?
XM_017009071.2:c.228_229del	XP_016864560.1:p.Pro77PhefsTer?
NM_004387.4:c.228_229del MANE Select	NP_004378.1:p.Pro77PhefsTer?
NM_001166175.2:c.228_229del	NP_001159647.1:p.Pro77PhefsTer?
NM_001166176.2:c.228_229del	NP_001159648.1:p.Pro77PhefsTer?