Canonical Allele Identifier: CA650504875

Gene: NKX2-5

Linked Data

• COSMIC: COSN15662258

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232503dup , CM000667.2:g.173232503dup	GRCh38
NC_000005.9:g.172659506dup , CM000667.1:g.172659506dup	GRCh37
NC_000005.8:g.172592112dup	NCBI36
NG_013340.1:g.7810dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*66dup MANE Select	ENSP00000327758.4:n.*66dup
ENST00000329198.4:c.*66dup	ENSP00000327758.4:n.*66dup
NM_001166175.1:c.*994dup	NP_001159647.1:n.*994dup
NM_001166176.1:c.*840dup	NP_001159648.1:n.*840dup
NM_004387.3:c.*66dup	NP_004378.1:n.*66dup
NM_004387.4:c.*66dup MANE Select	NP_004378.1:n.*66dup
NM_001166175.2:c.*994dup	NP_001159647.1:n.*994dup
NM_001166176.2:c.*840dup	NP_001159648.1:n.*840dup