Canonical Allele Identifier: CA2573050851

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436884-GCCAGCCGCTGCGCTCCTCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436885_133436906del , CM000671.2:g.133436885_133436906del	GRCh38
NC_000009.10:g.135291826_135291847del	NCBI36
NG_011934.2:g.27547_27568del , LRG_544:g.27547_27568del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1365_1386del MANE Select	ENSP00000347927.2:p.Gln456AlafsTer?
ENST00000355699.6:c.1365_1386del	ENSP00000347927.2:p.Gln456AlafsTer?
ENST00000356589.6:c.1272_1293del	ENSP00000348997.2:p.Gln425AlafsTer?
ENST00000371916.5:c.621_642del	ENSP00000360984.2:p.Gln208AlafsTer?
ENST00000371929.7:c.1365_1386del	ENSP00000360997.3:p.Gln456AlafsTer?
ENST00000474918.1:c.*169_*190del	ENSP00000435305.1:n.*169_*190del
ENST00000485925.5:n.974-2481_974-2460del
ENST00000495234.5:c.*649_*670del	ENSP00000435274.1:n.*649_*670del
NM_139025.4:c.1365_1386del , LRG_544t1:c.1365_1386del	NP_620594.1:p.Gln456AlafsTer?
NM_139026.4:c.1272_1293del	NP_620595.1:p.Gln425AlafsTer?
NM_139027.4:c.1365_1386del	NP_620596.2:p.Gln456AlafsTer?
NR_024514.2:n.993-2481_993-2460del
XM_011518174.1:c.975_996del	XP_011516476.1:p.Gln326AlafsTer?
XM_011518175.1:c.1365_1386del	XP_011516477.1:p.Gln456AlafsTer?
XM_011518176.1:c.381_402del	XP_011516478.1:p.Gln128AlafsTer?
XM_011518177.1:c.375_396del	XP_011516479.1:p.Gln126AlafsTer?
XM_011518178.1:c.30_51del	XP_011516480.1:p.Gln11AlafsTer?
XM_011518179.1:c.151_172del	XP_011516481.1:p.Pro51GlyfsTer?
XM_011518180.1:c.687-7978_687-7957del	XP_011516482.1:n.687-7978_687-7957del
XM_011518176.3:c.381_402del	XP_011516478.1:p.Gln128AlafsTer?
XM_011518178.2:c.30_51del	XP_011516480.1:p.Gln11AlafsTer?
XM_017014232.1:c.1353_1374del	XP_016869721.1:p.Gln452AlafsTer?
XM_017014233.1:c.975_996del	XP_016869722.1:p.Gln326AlafsTer?
XM_017014234.2:c.375_396del	XP_016869723.1:p.Gln126AlafsTer?
XM_017014235.1:c.1365_1386del	XP_016869724.1:p.Gln456AlafsTer?
XR_001746171.1:n.2590_2611del
NM_139026.5:c.1272_1293del	NP_620595.1:p.Gln425AlafsTer?
NM_139027.5:c.1365_1386del	NP_620596.2:p.Gln456AlafsTer?
NM_139025.5:c.1365_1386del	NP_620594.1:p.Gln456AlafsTer?
NM_139026.6:c.1272_1293del	NP_620595.1:p.Gln425AlafsTer?
NM_139027.6:c.1365_1386del MANE Select	NP_620596.2:p.Gln456AlafsTer?
NR_024514.3:n.995-2481_995-2460del