Canonical Allele Identifier: CA132258658
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs752958623
gnomAD v4: 5-173232509-CGA-C
MyVariant Identifiers: chr5:g.172659513_172659514del (hg19) chr5:g.173232510_173232511del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232513_173232514del , CM000667.2:g.173232513_173232514del GRCh38
NC_000005.9:g.172659516_172659517del , CM000667.1:g.172659516_172659517del GRCh37
NC_000005.8:g.172592122_172592123del NCBI36
NG_013340.1:g.7802_7803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*58_*59del MANE Select ENSP00000327758.4:n.*58_*59del
ENST00000329198.4:c.*58_*59del ENSP00000327758.4:n.*58_*59del
NM_001166175.1:c.*986_*987del NP_001159647.1:n.*986_*987del
NM_001166176.1:c.*832_*833del NP_001159648.1:n.*832_*833del
NM_004387.3:c.*58_*59del NP_004378.1:n.*58_*59del
NM_004387.4:c.*58_*59del MANE Select NP_004378.1:n.*58_*59del
NM_001166175.2:c.*986_*987del NP_001159647.1:n.*986_*987del
NM_001166176.2:c.*832_*833del NP_001159648.1:n.*832_*833del
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