Canonical Allele Identifier: CA1128280998

Gene: ALAD

Linked Data

• dbSNP Id: rs1827485676
• gnomAD v3: 9-113388965-T-TTGCC
• gnomAD v4: 9-113388965-T-TTGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388971_113388974dup , CM000671.2:g.113388971_113388974dup	GRCh38
NC_000009.11:g.116151251_116151254dup , CM000671.1:g.116151251_116151254dup	GRCh37
NC_000009.10:g.115191072_115191075dup	NCBI36
NG_008716.1:g.17370_17373dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.931+8_931+11dup MANE Select	ENSP00000386284.3:n.931+8_931+11dup
ENST00000409155.7:c.931+8_931+11dup	ENSP00000386284.3:n.931+8_931+11dup
ENST00000482847.5:n.1204+8_1204+11dup
NM_000031.5:c.931+8_931+11dup	NP_000022.3:n.931+8_931+11dup
XM_005251799.1:c.1018+8_1018+11dup	XP_005251856.1:n.1018+8_1018+11dup
XM_011518363.1:c.1057+8_1057+11dup	XP_011516665.1:n.1057+8_1057+11dup
XM_011518364.1:c.958+8_958+11dup	XP_011516666.1:n.958+8_958+11dup
NM_001003945.2:c.1018+8_1018+11dup	NP_001003945.1:n.1018+8_1018+11dup
NM_001317745.1:c.907+8_907+11dup	NP_001304674.1:n.907+8_907+11dup
XM_011518364.2:c.958+8_958+11dup	XP_011516666.1:n.958+8_958+11dup
XM_024447449.1:c.1018+8_1018+11dup	XP_024303217.1:n.1018+8_1018+11dup
NM_000031.6:c.931+8_931+11dup MANE Select	NP_000022.3:n.931+8_931+11dup
NM_001003945.3:c.1018+8_1018+11dup	NP_001003945.1:n.1018+8_1018+11dup
NM_001317745.2:c.907+8_907+11dup	NP_001304674.1:n.907+8_907+11dup