Canonical Allele Identifier: CA132258662
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1056798903
gnomAD v3: 5-173232514-GT-G
gnomAD v4: 5-173232514-GT-G
MyVariant Identifiers: chr5:g.172659518del (hg19) chr5:g.173232515del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232515del , CM000667.2:g.173232515del GRCh38
NC_000005.9:g.172659518del , CM000667.1:g.172659518del GRCh37
NC_000005.8:g.172592124del NCBI36
NG_013340.1:g.7798del

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*54del MANE Select ENSP00000327758.4:n.*54del
ENST00000329198.4:c.*54del ENSP00000327758.4:n.*54del
NM_001166175.1:c.*982del NP_001159647.1:n.*982del
NM_001166176.1:c.*828del NP_001159648.1:n.*828del
NM_004387.3:c.*54del NP_004378.1:n.*54del
NM_004387.4:c.*54del MANE Select NP_004378.1:n.*54del
NM_001166175.2:c.*982del NP_001159647.1:n.*982del
NM_001166176.2:c.*828del NP_001159648.1:n.*828del
Search 100 bp 5'
Search 100 bp 3'