Canonical Allele Identifier: CA2676543196

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173235020-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173235020_173235021insC , CM000667.2:g.173235020_173235021insC	GRCh38
NC_000005.9:g.172662023_172662024insC , CM000667.1:g.172662023_172662024insC	GRCh37
NC_000005.8:g.172594629_172594630insC	NCBI36
NG_013340.1:g.5292_5293insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.63_64insG MANE Select	ENSP00000327758.4:p.Gln22AlafsTer?
ENST00000329198.4:c.63_64insG	ENSP00000327758.4:p.Gln22AlafsTer?
ENST00000424406.2:c.63_64insG	ENSP00000395378.2:p.Gln22AlafsTer?
ENST00000517440.1:c.63_64insG	ENSP00000429905.1:p.Gln22AlafsTer?
ENST00000521848.1:c.63_64insG	ENSP00000427906.1:p.Gln22AlafsTer?
NM_001166175.1:c.63_64insG	NP_001159647.1:p.Gln22AlafsTer?
NM_001166176.1:c.63_64insG	NP_001159648.1:p.Gln22AlafsTer?
NM_004387.3:c.63_64insG	NP_004378.1:p.Gln22AlafsTer?
XM_017009071.2:c.63_64insG	XP_016864560.1:p.Gln22AlafsTer?
NM_004387.4:c.63_64insG MANE Select	NP_004378.1:p.Gln22AlafsTer?
NM_001166175.2:c.63_64insG	NP_001159647.1:p.Gln22AlafsTer?
NM_001166176.2:c.63_64insG	NP_001159648.1:p.Gln22AlafsTer?