Canonical Allele Identifier: CA527707484
Gene:

Linked Data

dbSNP Id: rs769467845
gnomAD v2: 1-193090911-C-CCGCG
gnomAD v3: 1-193121781-C-CCGCG
gnomAD v4: 1-193121781-C-CCGCG
MyVariant Identifiers: chr1:g.193090913_193090914insCGCG (hg19) chr1:g.193121783_193121784insCGCG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121791_193121794dup , CM000663.2:g.193121791_193121794dup GRCh38
NC_000001.10:g.193090921_193090924dup , CM000663.1:g.193090921_193090924dup GRCh37
NC_000001.9:g.191357544_191357547dup NCBI36
NG_012691.1:g.4834_4837dup , LRG_507:g.4834_4837dup

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1872_1875dup
Search 100 bp 5'
Search 100 bp 3'