Canonical Allele Identifier: CA2691296099

Gene: ALAD

Linked Data

• gnomAD v4: 9-113389007-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389008dup , CM000671.2:g.113389008dup	GRCh38
NC_000009.11:g.116151288dup , CM000671.1:g.116151288dup	GRCh37
NC_000009.10:g.115191109dup	NCBI36
NG_008716.1:g.17331dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.900dup MANE Select	ENSP00000386284.3:p.Leu301ThrfsTer13
ENST00000409155.7:c.900dup	ENSP00000386284.3:p.Leu301ThrfsTer13
ENST00000482847.5:n.1173dup
NM_000031.5:c.900dup	NP_000022.3:p.Leu301ThrfsTer13
XM_005251799.1:c.987dup	XP_005251856.1:p.Leu330ThrfsTer13
XM_011518363.1:c.1026dup	XP_011516665.1:p.Leu343ThrfsTer13
XM_011518364.1:c.927dup	XP_011516666.1:p.Leu310ThrfsTer13
NM_001003945.2:c.987dup	NP_001003945.1:p.Leu330ThrfsTer13
NM_001317745.1:c.876dup	NP_001304674.1:p.Leu293ThrfsTer13
XM_011518364.2:c.927dup	XP_011516666.1:p.Leu310ThrfsTer13
XM_024447449.1:c.987dup	XP_024303217.1:p.Leu330ThrfsTer13
NM_000031.6:c.900dup MANE Select	NP_000022.3:p.Leu301ThrfsTer13
NM_001003945.3:c.987dup	NP_001003945.1:p.Leu330ThrfsTer13
NM_001317745.2:c.876dup	NP_001304674.1:p.Leu293ThrfsTer13