Canonical Allele Identifier: CA1601615924

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232983_173232988delinsCTGGAA , CM000667.2:g.173232983_173232988delinsCTGGAA	GRCh38
NC_000005.9:g.172659986_172659991delinsCTGGAA , CM000667.1:g.172659986_172659991delinsCTGGAA	GRCh37
NC_000005.8:g.172592592_172592597delinsCTGGAA	NCBI36
NG_013340.1:g.7325_7330delinsTTCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.556_561delinsTTCCAG MANE Select	ENSP00000327758.4:p.Phe186=
ENST00000329198.4:c.556_561delinsTTCCAG	ENSP00000327758.4:p.Phe186=
ENST00000424406.2:c.*509_*514delinsTTCCAG	ENSP00000395378.2:n.*509_*514delinsTTCCAG
ENST00000521848.1:c.*355_*360delinsTTCCAG	ENSP00000427906.1:n.*355_*360delinsTTCCAG
NM_001166175.1:c.*509_*514delinsTTCCAG	NP_001159647.1:n.*509_*514delinsTTCCAG
NM_001166176.1:c.*355_*360delinsTTCCAG	NP_001159648.1:n.*355_*360delinsTTCCAG
NM_004387.3:c.556_561delinsTTCCAG	NP_004378.1:p.Phe186=
NM_004387.4:c.556_561delinsTTCCAG MANE Select	NP_004378.1:p.Phe186=
NM_001166175.2:c.*509_*514delinsTTCCAG	NP_001159647.1:n.*509_*514delinsTTCCAG
NM_001166176.2:c.*355_*360delinsTTCCAG	NP_001159648.1:n.*355_*360delinsTTCCAG