Canonical Allele Identifier: CA3563866

Gene: NKX2-5

Linked Data

• dbSNP Id: rs766589495
• ExAC: 5:172662091 GCAGCGCCAGTCTCA / G
• gnomAD v2: 5-172662091-GCAGCGCCAGTCTCA-G
• gnomAD v3: 5-173235088-GCAGCGCCAGTCTCA-G
• gnomAD v4: 5-173235088-GCAGCGCCAGTCTCA-G
• MyVariant Identifiers: chr5:g.172662092_172662105del (hg19) ; chr5:g.173235089_173235102del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235098_173235111del , CM000667.2:g.173235098_173235111del	GRCh38
NC_000005.9:g.172662101_172662114del , CM000667.1:g.172662101_172662114del	GRCh37
NC_000005.8:g.172594707_172594720del	NCBI36
NG_013340.1:g.5211_5224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.-19_-6del MANE Select	ENSP00000327758.4:n.-19_-6del
ENST00000329198.4:c.-19_-6del	ENSP00000327758.4:n.-19_-6del
ENST00000424406.2:c.-19_-6del	ENSP00000395378.2:n.-19_-6del
ENST00000517440.1:c.-19_-6del	ENSP00000429905.1:n.-19_-6del
ENST00000521848.1:c.-19_-6del	ENSP00000427906.1:n.-19_-6del
NM_001166175.1:c.-19_-6del	NP_001159647.1:n.-19_-6del
NM_001166176.1:c.-19_-6del	NP_001159648.1:n.-19_-6del
NM_004387.3:c.-19_-6del	NP_004378.1:n.-19_-6del
XM_017009071.2:c.-19_-6del	XP_016864560.1:n.-19_-6del
NM_004387.4:c.-19_-6del MANE Select	NP_004378.1:n.-19_-6del
NM_001166175.2:c.-19_-6del	NP_001159647.1:n.-19_-6del
NM_001166176.2:c.-19_-6del	NP_001159648.1:n.-19_-6del