Canonical Allele Identifier: CA556485880
Gene: AGA-DT HGNC NCBI

Linked Data

dbSNP Id: rs1209033988
gnomAD v2: 4-178363779-C-CA
gnomAD v3: 4-177442625-C-CA
gnomAD v4: 4-177442625-C-CA
MyVariant Identifiers: chr4:g.178363779_178363780insA (hg19) chr4:g.177442625_177442626insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442627dup , CM000666.2:g.177442627dup GRCh38
NC_000004.11:g.178363781dup , CM000666.1:g.178363781dup GRCh37
NC_000004.10:g.178600775dup NCBI36
NG_011845.2:g.4878dup

Transcript Alleles

HGVS Amino-acid Change
XR_001741929.1:n.82+46dup
Search 100 bp 5'
Search 100 bp 3'