Canonical Allele Identifier: CA2543528108

Gene: ALAD

Linked Data

• dbSNP Id: rs2118981095
• gnomAD v3: 9-113388842-AGT-A
• gnomAD v4: 9-113388842-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388849_113388850del , CM000671.2:g.113388849_113388850del	GRCh38
NC_000009.11:g.116151129_116151130del , CM000671.1:g.116151129_116151130del	GRCh37
NC_000009.10:g.115190950_115190951del	NCBI36
NG_008716.1:g.17495_17496del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+133_931+134del MANE Select	ENSP00000386284.3:n.931+133_931+134del
ENST00000409155.7:c.931+133_931+134del	ENSP00000386284.3:n.931+133_931+134del
ENST00000482847.5:n.1204+133_1204+134del
NM_000031.5:c.931+133_931+134del	NP_000022.3:n.931+133_931+134del
XM_005251799.1:c.1018+133_1018+134del	XP_005251856.1:n.1018+133_1018+134del
XM_011518363.1:c.1057+133_1057+134del	XP_011516665.1:n.1057+133_1057+134del
XM_011518364.1:c.958+133_958+134del	XP_011516666.1:n.958+133_958+134del
NM_001003945.2:c.1018+133_1018+134del	NP_001003945.1:n.1018+133_1018+134del
NM_001317745.1:c.907+133_907+134del	NP_001304674.1:n.907+133_907+134del
XM_011518364.2:c.958+133_958+134del	XP_011516666.1:n.958+133_958+134del
XM_024447449.1:c.1018+133_1018+134del	XP_024303217.1:n.1018+133_1018+134del
NM_000031.6:c.931+133_931+134del MANE Select	NP_000022.3:n.931+133_931+134del
NM_001003945.3:c.1018+133_1018+134del	NP_001003945.1:n.1018+133_1018+134del
NM_001317745.2:c.907+133_907+134del	NP_001304674.1:n.907+133_907+134del