Canonical Allele Identifier: CA2840662946

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448706dup , CM000671.2:g.133448706dup	GRCh38
NC_000009.10:g.135303648dup	NCBI36
NG_011934.2:g.39368dup , LRG_544:g.39368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2839dup MANE Select	ENSP00000347927.2:p.Gln947ProfsTer?
ENST00000355699.6:c.2839dup	ENSP00000347927.2:p.Gln947ProfsTer?
ENST00000356589.6:c.2746dup	ENSP00000348997.2:p.Gln916ProfsTer?
ENST00000371916.5:c.*308dup	ENSP00000360984.2:n.*308dup
ENST00000371929.7:c.2839dup	ENSP00000360997.3:p.Gln947ProfsTer?
ENST00000485925.5:n.1655dup
ENST00000495234.5:c.*1671dup	ENSP00000435274.1:n.*1671dup
NM_139025.4:c.2839dup , LRG_544t1:c.2839dup	NP_620594.1:p.Gln947ProfsTer?
NM_139026.4:c.2746dup	NP_620595.1:p.Gln916ProfsTer?
NM_139027.4:c.2839dup	NP_620596.2:p.Gln947ProfsTer?
NR_024514.2:n.1674dup
XM_011518174.1:c.2449dup	XP_011516476.1:p.Gln817ProfsTer?
XM_011518175.1:c.2839dup	XP_011516477.1:p.Gln947ProfsTer?
XM_011518176.1:c.1855dup	XP_011516478.1:p.Gln619ProfsTer?
XM_011518177.1:c.1849dup	XP_011516479.1:p.Gln617ProfsTer?
XM_011518178.1:c.1504dup	XP_011516480.1:p.Gln502ProfsTer?
XM_011518179.1:c.1504dup	XP_011516481.1:p.Gln502ProfsTer?
XM_011518180.1:c.1105dup	XP_011516482.1:p.Gln369ProfsTer?
XM_011518176.3:c.1855dup	XP_011516478.1:p.Gln619ProfsTer?
XM_011518178.2:c.1504dup	XP_011516480.1:p.Gln502ProfsTer?
XM_017014232.1:c.2827dup	XP_016869721.1:p.Gln943ProfsTer?
XM_017014233.1:c.2449dup	XP_016869722.1:p.Gln817ProfsTer?
XM_017014234.2:c.1849dup	XP_016869723.1:p.Gln617ProfsTer?
XR_001746171.1:n.3612dup
NM_139026.5:c.2746dup	NP_620595.1:p.Gln916ProfsTer?
NM_139027.5:c.2839dup	NP_620596.2:p.Gln947ProfsTer?
NM_139025.5:c.2839dup	NP_620594.1:p.Gln947ProfsTer?
NM_139026.6:c.2746dup	NP_620595.1:p.Gln916ProfsTer?
NM_139027.6:c.2839dup MANE Select	NP_620596.2:p.Gln947ProfsTer?
NR_024514.3:n.1676dup