Canonical Allele Identifier: CA2840662947

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448722del , CM000671.2:g.133448722del	GRCh38
NC_000009.10:g.135303664del	NCBI36
NG_011934.2:g.39384del , LRG_544:g.39384del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2855del MANE Select	ENSP00000347927.2:p.Pro952LeufsTer13
ENST00000355699.6:c.2855del	ENSP00000347927.2:p.Pro952LeufsTer13
ENST00000356589.6:c.2762del	ENSP00000348997.2:p.Pro921LeufsTer13
ENST00000371916.5:c.*324del	ENSP00000360984.2:n.*324del
ENST00000371929.7:c.2855del	ENSP00000360997.3:p.Pro952LeufsTer13
ENST00000485925.5:n.1671del
ENST00000495234.5:c.*1687del	ENSP00000435274.1:n.*1687del
NM_139025.4:c.2855del , LRG_544t1:c.2855del	NP_620594.1:p.Pro952LeufsTer13
NM_139026.4:c.2762del	NP_620595.1:p.Pro921LeufsTer13
NM_139027.4:c.2855del	NP_620596.2:p.Pro952LeufsTer13
NR_024514.2:n.1690del
XM_011518174.1:c.2465del	XP_011516476.1:p.Pro822LeufsTer13
XM_011518175.1:c.2855del	XP_011516477.1:p.Pro952LeufsTer13
XM_011518176.1:c.1871del	XP_011516478.1:p.Pro624LeufsTer13
XM_011518177.1:c.1865del	XP_011516479.1:p.Pro622LeufsTer13
XM_011518178.1:c.1520del	XP_011516480.1:p.Pro507LeufsTer13
XM_011518179.1:c.1520del	XP_011516481.1:p.Pro507LeufsTer13
XM_011518180.1:c.1121del	XP_011516482.1:p.Pro374LeufsTer13
XM_011518176.3:c.1871del	XP_011516478.1:p.Pro624LeufsTer13
XM_011518178.2:c.1520del	XP_011516480.1:p.Pro507LeufsTer13
XM_017014232.1:c.2843del	XP_016869721.1:p.Pro948LeufsTer13
XM_017014233.1:c.2465del	XP_016869722.1:p.Pro822LeufsTer13
XM_017014234.2:c.1865del	XP_016869723.1:p.Pro622LeufsTer13
XR_001746171.1:n.3628del
NM_139026.5:c.2762del	NP_620595.1:p.Pro921LeufsTer13
NM_139027.5:c.2855del	NP_620596.2:p.Pro952LeufsTer13
NM_139025.5:c.2855del	NP_620594.1:p.Pro952LeufsTer13
NM_139026.6:c.2762del	NP_620595.1:p.Pro921LeufsTer13
NM_139027.6:c.2855del MANE Select	NP_620596.2:p.Pro952LeufsTer13
NR_024514.3:n.1692del