Canonical Allele Identifier: CA16611805
Gene: NKX2-5 HGNC NCBI

Linked Data

ClinVar Variation Id: 410969
ClinVar RCV Id: RCV000023022 RCV000462724
dbSNP Id: rs756974215
gnomAD v2: 5-172659673-AGTT-A
gnomAD v3: 5-173232670-AGTT-A
gnomAD v4: 5-173232670-AGTT-A
MyVariant Identifiers: chr5:g.172659674_172659676del (hg19) chr5:g.173232671_173232673del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232678_173232680del , CM000667.2:g.173232678_173232680del GRCh38
NC_000005.9:g.172659681_172659683del , CM000667.1:g.172659681_172659683del GRCh37
NC_000005.8:g.172592287_172592289del NCBI36
NG_013340.1:g.7640_7642del

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.871_873del MANE Select ENSP00000327758.4:p.Asn291del
ENST00000329198.4:c.871_873del ENSP00000327758.4:p.Asn291del
NM_001166175.1:c.*824_*826del NP_001159647.1:n.*824_*826del
NM_001166176.1:c.*670_*672del NP_001159648.1:n.*670_*672del
NM_004387.3:c.871_873del NP_004378.1:p.Asn291del
NM_004387.4:c.871_873del MANE Select NP_004378.1:p.Asn291del
NM_001166175.2:c.*824_*826del NP_001159647.1:n.*824_*826del
NM_001166176.2:c.*670_*672del NP_001159648.1:n.*670_*672del
Search 100 bp 5'
Search 100 bp 3'