Canonical Allele Identifier: CA807697044

Gene: NKX2-5

Linked Data

• dbSNP Id: rs1312237348
• gnomAD v3: 5-173234631-A-AC
• gnomAD v4: 5-173234631-A-AC
• MyVariant Identifiers: chr5:g.172661634_172661635insC (hg19) ; chr5:g.173234631_173234632insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234637dup , CM000667.2:g.173234637dup	GRCh38
NC_000005.9:g.172661640dup , CM000667.1:g.172661640dup	GRCh37
NC_000005.8:g.172594246dup	NCBI36
NG_013340.1:g.5681dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.334+118dup MANE Select	ENSP00000327758.4:n.334+118dup
ENST00000329198.4:c.334+118dup	ENSP00000327758.4:n.334+118dup
ENST00000424406.2:c.334+118dup	ENSP00000395378.2:n.334+118dup
ENST00000517440.1:c.334+118dup	ENSP00000429905.1:n.334+118dup
ENST00000521848.1:c.334+118dup	ENSP00000427906.1:n.334+118dup
NM_001166175.1:c.334+118dup	NP_001159647.1:n.334+118dup
NM_001166176.1:c.334+118dup	NP_001159648.1:n.334+118dup
NM_004387.3:c.334+118dup	NP_004378.1:n.334+118dup
XM_017009071.2:c.334+118dup	XP_016864560.1:n.334+118dup
NM_004387.4:c.334+118dup MANE Select	NP_004378.1:n.334+118dup
NM_001166175.2:c.334+118dup	NP_001159647.1:n.334+118dup
NM_001166176.2:c.334+118dup	NP_001159648.1:n.334+118dup