Canonical Allele Identifier: CA2691297044

Gene: ALAD

Linked Data

• gnomAD v4: 9-113391618-C-CAGGTATGGTGTGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113391618_113391619insAGGTATGGTGTGAAG , CM000671.2:g.113391618_113391619insAGGTATGGTGTGAAG	GRCh38
NC_000009.11:g.116153898_116153899insAGGTATGGTGTGAAG , CM000671.1:g.116153898_116153899insAGGTATGGTGTGAAG	GRCh37
NC_000009.10:g.115193719_115193720insAGGTATGGTGTGAAG	NCBI36
NG_008716.1:g.14720_14721insCTTCACACCATACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409155.8:c.169_170insCTTCACACCATACCT MANE Select	ENSP00000386284.3:p.Gly57delinsAlaSerHisHisThrCys
ENST00000409155.7:c.169_170insCTTCACACCATACCT	ENSP00000386284.3:p.Gly57delinsAlaSerHisHisThrCys
ENST00000448137.5:c.196_197insCTTCACACCATACCT	ENSP00000392748.1:p.Gly66delinsAlaSerHisHisThrCys
ENST00000464749.5:n.258-686_258-685insCTTCACACCATACCT
ENST00000468504.5:n.291_292insCTTCACACCATACCT
ENST00000482001.1:n.442_443insCTTCACACCATACCT
ENST00000482847.5:n.442_443insCTTCACACCATACCT
NM_000031.5:c.169_170insCTTCACACCATACCT	NP_000022.3:p.Gly57delinsAlaSerHisHisThrCys
XM_005251799.1:c.256_257insCTTCACACCATACCT	XP_005251856.1:p.Gly86delinsAlaSerHisHisThrCys
XM_011518363.1:c.295_296insCTTCACACCATACCT	XP_011516665.1:p.Gly99delinsAlaSerHisHisThrCys
XM_011518364.1:c.196_197insCTTCACACCATACCT	XP_011516666.1:p.Gly66delinsAlaSerHisHisThrCys
NM_001003945.2:c.256_257insCTTCACACCATACCT	NP_001003945.1:p.Gly86delinsAlaSerHisHisThrCys
NM_001317745.1:c.145_146insCTTCACACCATACCT	NP_001304674.1:p.Gly49delinsAlaSerHisHisThrCys
XM_011518364.2:c.196_197insCTTCACACCATACCT	XP_011516666.1:p.Gly66delinsAlaSerHisHisThrCys
XM_024447449.1:c.256_257insCTTCACACCATACCT	XP_024303217.1:p.Gly86delinsAlaSerHisHisThrCys
XR_002956764.1:n.669_670insCTTCACACCATACCT
NM_000031.6:c.169_170insCTTCACACCATACCT MANE Select	NP_000022.3:p.Gly57delinsAlaSerHisHisThrCys
NM_001003945.3:c.256_257insCTTCACACCATACCT	NP_001003945.1:p.Gly86delinsAlaSerHisHisThrCys
NM_001317745.2:c.145_146insCTTCACACCATACCT	NP_001304674.1:p.Gly49delinsAlaSerHisHisThrCys