Canonical Allele Identifier: CA859046844
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs1450055491
gnomAD v3: 9-115381622-GATAGGTAT-G
gnomAD v4: 9-115381622-GATAGGTAT-G
MyVariant Identifiers: chr9:g.118143902_118143909del (hg19) chr9:g.115381623_115381630del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381627_115381634del , CM000671.2:g.115381627_115381634del GRCh38
NC_000009.11:g.118143906_118143913del , CM000671.1:g.118143906_118143913del GRCh37
NC_000009.10:g.117183727_117183734del NCBI36
NG_027530.1:g.244810_244817del

Transcript Alleles

HGVS Amino-acid Change
ENST00000374016.5:c.13+4912_13+4919del ENSP00000363128.1:n.13+4912_13+4919del
NM_017418.2:c.13+4912_13+4919del NP_059114.1:n.13+4912_13+4919del
XM_011518753.1:c.13+4912_13+4919del XP_011517055.1:n.13+4912_13+4919del
NR_163556.1:n.535+4912_535+4919del
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