Canonical Allele Identifier: CA564904277

Gene: NKX2-5

Linked Data

• gnomAD v2: 5-172661983-G-GC
• gnomAD v4: 5-173234980-G-GC
• MyVariant Identifiers: chr5:g.172661983_172661984insC (hg19) ; chr5:g.173234980_173234981insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173234981dup , CM000667.2:g.173234981dup	GRCh38
NC_000005.9:g.172661984dup , CM000667.1:g.172661984dup	GRCh37
NC_000005.8:g.172594590dup	NCBI36
NG_013340.1:g.5332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.103dup MANE Select	ENSP00000327758.4:p.Ala35GlyfsTer?
ENST00000329198.4:c.103dup	ENSP00000327758.4:p.Ala35GlyfsTer?
ENST00000424406.2:c.103dup	ENSP00000395378.2:p.Ala35GlyfsTer?
ENST00000517440.1:c.103dup	ENSP00000429905.1:p.Ala35GlyfsTer?
ENST00000521848.1:c.103dup	ENSP00000427906.1:p.Ala35GlyfsTer?
NM_001166175.1:c.103dup	NP_001159647.1:p.Ala35GlyfsTer?
NM_001166176.1:c.103dup	NP_001159648.1:p.Ala35GlyfsTer?
NM_004387.3:c.103dup	NP_004378.1:p.Ala35GlyfsTer?
XM_017009071.2:c.103dup	XP_016864560.1:p.Ala35GlyfsTer?
NM_004387.4:c.103dup MANE Select	NP_004378.1:p.Ala35GlyfsTer?
NM_001166175.2:c.103dup	NP_001159647.1:p.Ala35GlyfsTer?
NM_001166176.2:c.103dup	NP_001159648.1:p.Ala35GlyfsTer?