Canonical Allele Identifier: CA590297757
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs1372946363
gnomAD v2: 9-118143924-G-C
gnomAD v3: 9-115381645-G-C
gnomAD v4: 9-115381645-G-C
MyVariant Identifiers: chr9:g.118143924G>C (hg19) chr9:g.115381645G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381645G>C , CM000671.2:g.115381645G>C GRCh38
NC_000009.11:g.118143924G>C , CM000671.1:g.118143924G>C GRCh37
NC_000009.10:g.117183745G>C NCBI36
NG_027530.1:g.244828G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374016.5:c.13+4930G>C ENSP00000363128.1:n.13+4930G>C
NM_017418.2:c.13+4930G>C NP_059114.1:n.13+4930G>C
XM_011518753.1:c.13+4930G>C XP_011517055.1:n.13+4930G>C
NR_163556.1:n.535+4930G>C
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