Canonical Allele Identifier: CA2595039437

Gene:

Linked Data

• gnomAD v3: 17-50211586-C-CCCCA
• gnomAD v4: 17-50211586-C-CCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50211586_50211587insCCCA , CM000679.2:g.50211586_50211587insCCCA	GRCh38
NC_000017.10:g.48288947_48288948insCCCA , CM000679.1:g.48288947_48288948insCCCA	GRCh37
NC_000017.9:g.45643946_45643947insCCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_934838.1:n.42+2180_42+2181insCCCA