Canonical Allele Identifier: CA2591694223

Gene:

Linked Data

• dbSNP Id: rs1798586147
• gnomAD v3: 8-5907705-TGAGA-T
• gnomAD v4: 8-5907705-TGAGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.5907708_5907711del , CM000670.2:g.5907708_5907711del	GRCh38
NC_000008.10:g.5765230_5765233del , CM000670.1:g.5765230_5765233del	GRCh37
NC_000008.9:g.5752638_5752641del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_941374.1:n.308-7978_308-7975del
XR_941375.1:n.308-7978_308-7975del
XR_941376.1:n.406-7978_406-7975del
XR_941377.1:n.308-7978_308-7975del
XR_941378.1:n.216-7978_216-7975del
XR_001745765.1:n.308-7978_308-7975del
XR_001745766.1:n.406-7978_406-7975del
XR_001745767.1:n.216-7978_216-7975del
XR_001745768.1:n.308-7978_308-7975del
XR_941374.2:n.308-7978_308-7975del
XR_941375.2:n.308-7978_308-7975del