Canonical Allele Identifier: CA590297758
Gene: DELEC1 HGNC NCBI

Linked Data

dbSNP Id: rs1225035077
gnomAD v2: 9-118143970-GTGTTACTTTGGAA-G
gnomAD v3: 9-115381691-GTGTTACTTTGGAA-G
gnomAD v4: 9-115381691-GTGTTACTTTGGAA-G
MyVariant Identifiers: chr9:g.118143971_118143983del (hg19) chr9:g.115381692_115381704del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.115381693_115381705del , CM000671.2:g.115381693_115381705del GRCh38
NC_000009.11:g.118143972_118143984del , CM000671.1:g.118143972_118143984del GRCh37
NC_000009.10:g.117183793_117183805del NCBI36
NG_027530.1:g.244876_244888del

Transcript Alleles

HGVS Amino-acid change
ENST00000374016.5:c.13+4978_13+4990del ENSP00000363128.1:n.13+4978_13+4990del
NM_017418.2:c.13+4978_13+4990del NP_059114.1:n.13+4978_13+4990del
XM_011518753.1:c.13+4978_13+4990del XP_011517055.1:n.13+4978_13+4990del
NR_163556.1:n.535+4978_535+4990del
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