Canonical Allele Identifier: CA625447406

Gene:

Linked Data

• dbSNP Id: rs1163336220
• gnomAD v2: 17-28564173-G-GCGA
• gnomAD v3: 17-30237155-G-GCGA
• gnomAD v4: 17-30237155-G-GCGA
• MyVariant Identifiers: chr17:g.28564173_28564174insCGA (hg19) ; chr17:g.30237155_30237156insCGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.30237155_30237156insCGA , CM000679.2:g.30237155_30237156insCGA	GRCh38
NC_000017.10:g.28564173_28564174insCGA , CM000679.1:g.28564173_28564174insCGA	GRCh37
NC_000017.9:g.25588299_25588300insCGA	NCBI36
NG_011747.2:g.3781_3782insTCG

Transcript Alleles

HGVS	Amino-acid Change
XR_934654.1:n.165+85_165+86insCGA
XR_001752824.1:n.280+85_280+86insCGA