Canonical Allele Identifier: CA82740832
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs34347275
gnomAD v2: 3-121769392-T-TC
gnomAD v3: 3-122050545-T-TC
gnomAD v4: 3-122050545-T-TC
MyVariant Identifiers: chr3:g.121769393_121769394insC (hg19) chr3:g.121769392_121769393insC (hg19) chr3:g.122050546_122050547insC (hg38) chr3:g.122050545_122050546insC (hg38)
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Genomic Alleles

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

Transcript Alleles

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