Canonical Allele Identifier: CA82740835
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs34347275
gnomAD v2: 3-121769392-TC-T
gnomAD v3: 3-122050545-TC-T
gnomAD v4: 3-122050545-TC-T
MyVariant Identifiers: chr3:g.121769393del (hg19) chr3:g.122050546del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050555del , CM000665.2:g.122050555del GRCh38
NC_000003.11:g.121769402del , CM000665.1:g.121769402del GRCh37
NC_000003.10:g.123252092del NCBI36
NG_029928.1:g.194del
NG_031870.2:g.15009del

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9874del XP_011511041.1:n.-348+9874del
XM_011512739.2:c.-348+9874del XP_011511041.1:n.-348+9874del
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