Canonical Allele Identifier: CA545643251

Gene: ILDR1

Linked Data

• dbSNP Id: rs34347275
• gnomAD v2: 3-121769392-T-TCC
• gnomAD v3: 3-122050545-T-TCC
• gnomAD v4: 3-122050545-T-TCC
• MyVariant Identifiers: chr3:g.121769393_121769394insCC (hg19) ; chr3:g.121769392_121769393insCC (hg19) ; chr3:g.122050546_122050547insCC (hg38) ; chr3:g.122050545_122050546insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122050554_122050555dup , CM000665.2:g.122050554_122050555dup	GRCh38
NC_000003.11:g.121769401_121769402dup , CM000665.1:g.121769401_121769402dup	GRCh37
NC_000003.10:g.123252091_123252092dup	NCBI36
NG_029928.1:g.193_194dup
NG_031870.2:g.15008_15009dup

Transcript Alleles

HGVS	Amino-acid Change
XM_011512739.1:c.-348+9873_-348+9874dup	XP_011511041.1:n.-348+9873_-348+9874dup
XM_011512739.2:c.-348+9873_-348+9874dup	XP_011511041.1:n.-348+9873_-348+9874dup