Canonical Allele Identifier: CA198936593
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs74489332
gnomAD v2: 9-118143999-C-T
gnomAD v3: 9-115381720-C-T
gnomAD v4: 9-115381720-C-T
COSMIC: COSN2306959 COSN5695990
MyVariant Identifiers: chr9:g.118143999C>T (hg19) chr9:g.115381720C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381720C>T , CM000671.2:g.115381720C>T GRCh38
NC_000009.11:g.118143999C>T , CM000671.1:g.118143999C>T GRCh37
NC_000009.10:g.117183820C>T NCBI36
NG_027530.1:g.244903C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374016.5:c.13+5005C>T ENSP00000363128.1:n.13+5005C>T
NM_017418.2:c.13+5005C>T NP_059114.1:n.13+5005C>T
XM_011518753.1:c.13+5005C>T XP_011517055.1:n.13+5005C>T
NR_163556.1:n.535+5005C>T
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