Canonical Allele Identifier: CA545643248
Gene: ILDR1 HGNC NCBI

Linked Data

dbSNP Id: rs1559892352
gnomAD v2: 3-121769391-T-TC
gnomAD v3: 3-122050544-T-TC
gnomAD v4: 3-122050544-T-TC
MyVariant Identifiers: chr3:g.121769391_121769392insC (hg19) chr3:g.122050544_122050545insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122050544_122050545insC , CM000665.2:g.122050544_122050545insC GRCh38
NC_000003.11:g.121769391_121769392insC , CM000665.1:g.121769391_121769392insC GRCh37
NC_000003.10:g.123252081_123252082insC NCBI36
NG_029928.1:g.183_184insC
NG_031870.2:g.15010_15011insG

Transcript Alleles

HGVS Amino-acid Change
XM_011512739.1:c.-348+9875_-348+9876insG XP_011511041.1:n.-348+9875_-348+9876insG
XM_011512739.2:c.-348+9875_-348+9876insG XP_011511041.1:n.-348+9875_-348+9876insG
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