Canonical Allele Identifier: CA527707634
Gene:

Linked Data

dbSNP Id: rs1174396281
gnomAD v2: 1-193090937-C-CCCGTACGTGCG
gnomAD v4: 1-193121807-C-CCCGTACGTGCG
MyVariant Identifiers: chr1:g.193090937_193090938insCCGTACGTGCG (hg19) chr1:g.193121807_193121808insCCGTACGTGCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121817_193121827dup , CM000663.2:g.193121817_193121827dup GRCh38
NC_000001.10:g.193090947_193090957dup , CM000663.1:g.193090947_193090957dup GRCh37
NC_000001.9:g.191357570_191357580dup NCBI36
NG_012691.1:g.4860_4870dup , LRG_507:g.4860_4870dup

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1839_1849dup
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