Canonical Allele Identifier: CA2695205817

Gene: NKX2-5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173233050dup , CM000667.2:g.173233050dup	GRCh38
NC_000005.9:g.172660053dup , CM000667.1:g.172660053dup	GRCh37
NC_000005.8:g.172592659dup	NCBI36
NG_013340.1:g.7267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.498dup MANE Select	ENSP00000327758.4:p.Glu167ArgfsTer?
ENST00000329198.4:c.498dup	ENSP00000327758.4:p.Glu167ArgfsTer?
ENST00000424406.2:c.*451dup	ENSP00000395378.2:n.*451dup
ENST00000521848.1:c.*297dup	ENSP00000427906.1:n.*297dup
NM_001166175.1:c.*451dup	NP_001159647.1:n.*451dup
NM_001166176.1:c.*297dup	NP_001159648.1:n.*297dup
NM_004387.3:c.498dup	NP_004378.1:p.Glu167ArgfsTer?
NM_004387.4:c.498dup MANE Select	NP_004378.1:p.Glu167ArgfsTer?
NM_001166175.2:c.*451dup	NP_001159647.1:n.*451dup
NM_001166176.2:c.*297dup	NP_001159648.1:n.*297dup