Canonical Allele Identifier: CA1099423990

Gene:

Linked Data

• dbSNP Id: rs2128231038
• gnomAD v3: 7-24283575-C-CGG
• gnomAD v4: 7-24283575-C-CGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.24283577_24283578dup , CM000669.2:g.24283577_24283578dup	GRCh38
NC_000007.13:g.24323196_24323197dup , CM000669.1:g.24323196_24323197dup	GRCh37
NC_000007.12:g.24289721_24289722dup	NCBI36
NG_016148.1:g.4390_4391dup

Transcript Alleles

HGVS	Amino-acid Change
XM_017012910.1:c.42-27878_42-27877dup	XP_016868399.1:n.42-27878_42-27877dup
XM_017012911.1:c.42-27878_42-27877dup	XP_016868400.1:n.42-27878_42-27877dup
XR_001745121.1:n.473+35780_473+35781dup
XR_001745122.1:n.345-86548_345-86547dup
XR_001745123.1:n.473+35780_473+35781dup
XR_001745124.1:n.473+35780_473+35781dup
XR_001745125.1:n.473+35780_473+35781dup
XR_001745126.1:n.473+35780_473+35781dup
XR_001745127.1:n.345-27878_345-27877dup
XR_001745129.1:n.473+35780_473+35781dup
XR_001745130.1:n.473+35780_473+35781dup
XR_001745131.1:n.473+35780_473+35781dup
XR_001745132.1:n.473+35780_473+35781dup