Canonical Allele Identifier: CA2691296098

Gene: ALAD

Linked Data

• gnomAD v4: 9-113388985-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113388986_113388987del , CM000671.2:g.113388986_113388987del	GRCh38
NC_000009.11:g.116151266_116151267del , CM000671.1:g.116151266_116151267del	GRCh37
NC_000009.10:g.115191087_115191088del	NCBI36
NG_008716.1:g.17352_17353del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.921_922del MANE Select	ENSP00000386284.3:p.Phe307LeufsTer6
ENST00000409155.7:c.921_922del	ENSP00000386284.3:p.Phe307LeufsTer6
ENST00000482847.5:n.1194_1195del
NM_000031.5:c.921_922del	NP_000022.3:p.Phe307LeufsTer6
XM_005251799.1:c.1008_1009del	XP_005251856.1:p.Phe336LeufsTer6
XM_011518363.1:c.1047_1048del	XP_011516665.1:p.Phe349LeufsTer6
XM_011518364.1:c.948_949del	XP_011516666.1:p.Phe316LeufsTer6
NM_001003945.2:c.1008_1009del	NP_001003945.1:p.Phe336LeufsTer6
NM_001317745.1:c.897_898del	NP_001304674.1:p.Phe299LeufsTer6
XM_011518364.2:c.948_949del	XP_011516666.1:p.Phe316LeufsTer6
XM_024447449.1:c.1008_1009del	XP_024303217.1:p.Phe336LeufsTer6
NM_000031.6:c.921_922del MANE Select	NP_000022.3:p.Phe307LeufsTer6
NM_001003945.3:c.1008_1009del	NP_001003945.1:p.Phe336LeufsTer6
NM_001317745.2:c.897_898del	NP_001304674.1:p.Phe299LeufsTer6