Canonical Allele Identifier: CA2676542101

Gene: NKX2-5

Linked Data

• gnomAD v4: 5-173232451-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173232452dup , CM000667.2:g.173232452dup	GRCh38
NC_000005.9:g.172659455dup , CM000667.1:g.172659455dup	GRCh37
NC_000005.8:g.172592061dup	NCBI36
NG_013340.1:g.7861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329198.5:c.*117dup MANE Select	ENSP00000327758.4:n.*117dup
ENST00000329198.4:c.*117dup	ENSP00000327758.4:n.*117dup
NM_001166175.1:c.*1045dup	NP_001159647.1:n.*1045dup
NM_001166176.1:c.*891dup	NP_001159648.1:n.*891dup
NM_004387.3:c.*117dup	NP_004378.1:n.*117dup
NM_004387.4:c.*117dup MANE Select	NP_004378.1:n.*117dup
NM_001166175.2:c.*1045dup	NP_001159647.1:n.*1045dup
NM_001166176.2:c.*891dup	NP_001159648.1:n.*891dup