Canonical Allele Identifier: CA130631
Gene: GATA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 39844
ClinVar RCV Id: RCV000033071
dbSNP Id: rs587776936
MyVariant Identifiers: chr18:g.19762793_19762794del (hg19) chr18:g.22182832_22182833del (hg38)
PubMed: PMID:8071961 PMID:22962692
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.22182832_22182833del , CM000680.2:g.22182832_22182833del GRCh38
NC_000018.9:g.19762793_19762794del , CM000680.1:g.19762793_19762794del GRCh37
NC_000018.8:g.18016791_18016792del NCBI36
NG_032677.1:g.18390_18391del
NG_032677.2:g.18396_18397del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269216.10:c.1504_1505del MANE Select ENSP00000269216.3:p.Lys502AspfsTer5
ENST00000269216.7:c.1504_1505del ENSP00000269216.3:p.Lys502AspfsTer5
ENST00000581694.1:c.1504_1505del ENSP00000462313.1:p.Lys502AspfsTer5
NM_005257.5:c.1504_1505del NP_005248.2:p.Lys502AspfsTer5
NM_005257.6:c.1504_1505del MANE Select NP_005248.2:p.Lys502AspfsTer5
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