Canonical Allele Identifier: CA5196584

Gene: ALAD

Linked Data

• dbSNP Id: rs758374172
• ExAC: 9:116153928 TGAAG / T
• gnomAD v2: 9-116153928-TGAAG-T
• gnomAD v3: 9-113391648-TGAAG-T
• gnomAD v4: 9-113391648-TGAAG-T
• MyVariant Identifiers: chr9:g.116153929_116153932del (hg19) ; chr9:g.113391649_113391652del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391654_113391657del , CM000671.2:g.113391654_113391657del	GRCh38
NC_000009.11:g.116153934_116153937del , CM000671.1:g.116153934_116153937del	GRCh37
NC_000009.10:g.115193755_115193758del	NCBI36
NG_008716.1:g.14687_14690del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.165-29_165-26del MANE Select	ENSP00000386284.3:n.165-29_165-26del
ENST00000409155.7:c.165-29_165-26del	ENSP00000386284.3:n.165-29_165-26del
ENST00000448137.5:c.192-29_192-26del	ENSP00000392748.1:n.192-29_192-26del
ENST00000464749.5:n.258-719_258-716del
ENST00000468504.5:n.287-29_287-26del
ENST00000482001.1:n.438-29_438-26del
ENST00000482847.5:n.438-29_438-26del
NM_000031.5:c.165-29_165-26del	NP_000022.3:n.165-29_165-26del
XM_005251799.1:c.252-29_252-26del	XP_005251856.1:n.252-29_252-26del
XM_011518363.1:c.291-29_291-26del	XP_011516665.1:n.291-29_291-26del
XM_011518364.1:c.192-29_192-26del	XP_011516666.1:n.192-29_192-26del
NM_001003945.2:c.252-29_252-26del	NP_001003945.1:n.252-29_252-26del
NM_001317745.1:c.141-29_141-26del	NP_001304674.1:n.141-29_141-26del
XM_011518364.2:c.192-29_192-26del	XP_011516666.1:n.192-29_192-26del
XM_024447449.1:c.252-29_252-26del	XP_024303217.1:n.252-29_252-26del
XR_002956764.1:n.665-29_665-26del
NM_000031.6:c.165-29_165-26del MANE Select	NP_000022.3:n.165-29_165-26del
NM_001003945.3:c.252-29_252-26del	NP_001003945.1:n.252-29_252-26del
NM_001317745.2:c.141-29_141-26del	NP_001304674.1:n.141-29_141-26del