Canonical Allele Identifier: CA2578487402
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232503-T-TC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232509dup , CM000667.2:g.173232509dup GRCh38
NC_000005.9:g.172659512dup , CM000667.1:g.172659512dup GRCh37
NC_000005.8:g.172592118dup NCBI36
NG_013340.1:g.7809dup

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*65dup MANE Select ENSP00000327758.4:n.*65dup
ENST00000329198.4:c.*65dup ENSP00000327758.4:n.*65dup
NM_001166175.1:c.*993dup NP_001159647.1:n.*993dup
NM_001166176.1:c.*839dup NP_001159648.1:n.*839dup
NM_004387.3:c.*65dup NP_004378.1:n.*65dup
NM_004387.4:c.*65dup MANE Select NP_004378.1:n.*65dup
NM_001166175.2:c.*993dup NP_001159647.1:n.*993dup
NM_001166176.2:c.*839dup NP_001159648.1:n.*839dup
Search 100 bp 5'
Search 100 bp 3'