Canonical Allele Identifier: CA590499569

Gene: ALAD

Linked Data

• dbSNP Id: rs1408617776
• gnomAD v2: 9-116151319-TG-T
• gnomAD v4: 9-113389039-TG-T
• MyVariant Identifiers: chr9:g.116151320del (hg19) ; chr9:g.113389040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389042del , CM000671.2:g.113389042del	GRCh38
NC_000009.11:g.116151322del , CM000671.1:g.116151322del	GRCh37
NC_000009.10:g.115191143del	NCBI36
NG_008716.1:g.17299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.868del MANE Select	ENSP00000386284.3:p.Gln290ArgfsTer15
ENST00000409155.7:c.868del	ENSP00000386284.3:p.Gln290ArgfsTer15
ENST00000482847.5:n.1141del
NM_000031.5:c.868del	NP_000022.3:p.Gln290ArgfsTer15
XM_005251799.1:c.955del	XP_005251856.1:p.Gln319ArgfsTer15
XM_011518363.1:c.994del	XP_011516665.1:p.Gln332ArgfsTer15
XM_011518364.1:c.895del	XP_011516666.1:p.Gln299ArgfsTer15
NM_001003945.2:c.955del	NP_001003945.1:p.Gln319ArgfsTer15
NM_001317745.1:c.844del	NP_001304674.1:p.Gln282ArgfsTer15
XM_011518364.2:c.895del	XP_011516666.1:p.Gln299ArgfsTer15
XM_024447449.1:c.955del	XP_024303217.1:p.Gln319ArgfsTer15
NM_000031.6:c.868del MANE Select	NP_000022.3:p.Gln290ArgfsTer15
NM_001003945.3:c.955del	NP_001003945.1:p.Gln319ArgfsTer15
NM_001317745.2:c.844del	NP_001304674.1:p.Gln282ArgfsTer15