Canonical Allele Identifier: CA2676543198

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173235021-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235021_173235022insCC , CM000667.2:g.173235021_173235022insCC	GRCh38
NC_000005.9:g.172662024_172662025insCC , CM000667.1:g.172662024_172662025insCC	GRCh37
NC_000005.8:g.172594630_172594631insCC	NCBI36
NG_013340.1:g.5291_5292insGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.62_63insGG MANE Select	ENSP00000327758.4:p.Gln22AspfsTer?
ENST00000329198.4:c.62_63insGG	ENSP00000327758.4:p.Gln22AspfsTer?
ENST00000424406.2:c.62_63insGG	ENSP00000395378.2:p.Gln22AspfsTer?
ENST00000517440.1:c.62_63insGG	ENSP00000429905.1:p.Gln22AspfsTer?
ENST00000521848.1:c.62_63insGG	ENSP00000427906.1:p.Gln22AspfsTer?
NM_001166175.1:c.62_63insGG	NP_001159647.1:p.Gln22AspfsTer?
NM_001166176.1:c.62_63insGG	NP_001159648.1:p.Gln22AspfsTer?
NM_004387.3:c.62_63insGG	NP_004378.1:p.Gln22AspfsTer?
XM_017009071.2:c.62_63insGG	XP_016864560.1:p.Gln22AspfsTer?
NM_004387.4:c.62_63insGG MANE Select	NP_004378.1:p.Gln22AspfsTer?
NM_001166175.2:c.62_63insGG	NP_001159647.1:p.Gln22AspfsTer?
NM_001166176.2:c.62_63insGG	NP_001159648.1:p.Gln22AspfsTer?