Canonical Allele Identifier: CA2692391810

Gene: ADAMTSL2

Linked Data

• gnomAD v4: 9-133539787-G-GGAGGAGCTTCCGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133539795_133539807dup , CM000671.2:g.133539795_133539807dup	GRCh38
NC_000009.11:g.136404917_136404929dup , CM000671.1:g.136404917_136404929dup	GRCh37
NC_000009.10:g.135394738_135394750dup	NCBI36
NG_009931.1:g.12632_12644dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000651351.2:c.334_346dup MANE Select	ENSP00000498961.2:p.Gln116LeufsTer28
ENST00000354484.8:c.334_346dup	ENSP00000346478.4:p.Gln116LeufsTer28
ENST00000393060.1:c.334_346dup	ENSP00000376780.1:p.Gln116LeufsTer28
ENST00000393061.7:c.661_673dup	ENSP00000376781.3:p.Gln225LeufsTer28
NM_001145320.1:c.334_346dup	NP_001138792.1:p.Gln116LeufsTer28
NM_014694.3:c.334_346dup	NP_055509.2:p.Gln116LeufsTer28
XM_005272237.2:c.661_673dup	XP_005272294.1:p.Gln225LeufsTer28
XM_005272238.2:c.369_381dup	XP_005272295.1:p.Ser128PhefsTer?
XM_005272239.2:c.334_346dup	XP_005272296.1:p.Gln116LeufsTer28
XM_006717337.2:c.334_346dup	XP_006717400.1:p.Gln116LeufsTer28
XM_011519241.1:c.222_234dup	XP_011517543.1:p.Ser79PhefsTer?
XM_011519242.1:c.400_412dup	XP_011517544.1:p.Gln138LeufsTer28
XM_005272237.3:c.661_673dup	XP_005272294.1:p.Gln225LeufsTer28
XM_005272238.3:c.369_381dup	XP_005272295.1:p.Ser128PhefsTer?
XM_011519241.2:c.549_561dup	XP_011517543.2:p.Ser188PhefsTer?
XM_011519242.3:c.400_412dup	XP_011517544.1:p.Gln138LeufsTer28
NM_014694.4:c.334_346dup MANE Select	NP_055509.2:p.Gln116LeufsTer28
NM_001145320.2:c.334_346dup	NP_001138792.1:p.Gln116LeufsTer28