Canonical Allele Identifier: CA917640741
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1561618796
gnomAD v4: 5-173232503-TC-T
JSON-LD

Genomic Alleles

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

Transcript Alleles

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