Canonical Allele Identifier: CA2499307151

Gene: ALAD

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.113389092_113389093del , CM000671.2:g.113389092_113389093del	GRCh38
NC_000009.11:g.116151372_116151373del , CM000671.1:g.116151372_116151373del	GRCh37
NC_000009.10:g.115191193_115191194del	NCBI36
NG_008716.1:g.17249_17250del

Transcript Alleles

HGVS	Amino-acid change
ENST00000409155.8:c.818_819del MANE Select	ENSP00000386284.3:p.Leu273ArgfsTer22
ENST00000409155.7:c.818_819del	ENSP00000386284.3:p.Leu273ArgfsTer22
ENST00000482847.5:n.1091_1092del
NM_000031.5:c.818_819del	NP_000022.3:p.Leu273ArgfsTer22
XM_005251799.1:c.905_906del	XP_005251856.1:p.Leu302ArgfsTer22
XM_011518363.1:c.944_945del	XP_011516665.1:p.Leu315ArgfsTer22
XM_011518364.1:c.845_846del	XP_011516666.1:p.Leu282ArgfsTer22
NM_001003945.2:c.905_906del	NP_001003945.1:p.Leu302ArgfsTer22
NM_001317745.1:c.794_795del	NP_001304674.1:p.Leu265ArgfsTer22
XM_011518364.2:c.845_846del	XP_011516666.1:p.Leu282ArgfsTer22
XM_024447449.1:c.905_906del	XP_024303217.1:p.Leu302ArgfsTer22
NM_000031.6:c.818_819del MANE Select	NP_000022.3:p.Leu273ArgfsTer22
NM_001003945.3:c.905_906del	NP_001003945.1:p.Leu302ArgfsTer22
NM_001317745.2:c.794_795del	NP_001304674.1:p.Leu265ArgfsTer22