Canonical Allele Identifier: CA2499219748

Gene: ADAMTSL2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133540723del , CM000671.2:g.133540723del	GRCh38
NC_000009.11:g.136405845del , CM000671.1:g.136405845del	GRCh37
NC_000009.10:g.135395666del	NCBI36
NG_009931.1:g.13560del

Transcript Alleles

HGVS	Amino-acid Change
NM_014694.4:c.538del MANE Select	NP_055509.2:p.Cys180AlafsTer?
ENST00000651351.2:c.538del MANE Select	ENSP00000498961.2:p.Cys180AlafsTer?
NM_001145320.1:c.538del	NP_001138792.1:p.Cys180AlafsTer?
NM_001145320.2:c.538del	NP_001138792.1:p.Cys180AlafsTer?
NM_014694.3:c.538del	NP_055509.2:p.Cys180AlafsTer?
ENST00000354484.8:c.538del	ENSP00000346478.4:p.Cys180AlafsTer?
ENST00000393060.1:c.538del	ENSP00000376780.1:p.Cys180AlafsTer?
ENST00000393061.7:c.865del	ENSP00000376781.3:p.Cys289AlafsTer?
XM_005272237.2:c.865del	XP_005272294.1:p.Cys289AlafsTer?
XM_005272237.3:c.865del	XP_005272294.1:p.Cys289AlafsTer?
XM_005272238.2:c.573del	XP_005272295.1:p.Phe191LeufsTer?
XM_005272238.3:c.573del	XP_005272295.1:p.Phe191LeufsTer?
XM_005272239.2:c.538del	XP_005272296.1:p.Cys180AlafsTer?
XM_006717337.2:c.538del	XP_006717400.1:p.Cys180AlafsTer?
XM_011519241.1:c.426del	XP_011517543.1:p.Phe142LeufsTer?
XM_011519241.2:c.753del	XP_011517543.2:p.Phe251LeufsTer?
XM_011519242.1:c.604del	XP_011517544.1:p.Cys202AlafsTer?
XM_011519242.3:c.604del	XP_011517544.1:p.Cys202AlafsTer?