Canonical Allele Identifier: CA2692370959

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436837-GAAGACCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436838_133436845del , CM000671.2:g.133436838_133436845del	GRCh38
NC_000009.10:g.135291779_135291786del	NCBI36
NG_011934.2:g.27500_27507del , LRG_544:g.27500_27507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1318_1325del MANE Select	ENSP00000347927.2:p.Lys440AlafsTer?
ENST00000355699.6:c.1318_1325del	ENSP00000347927.2:p.Lys440AlafsTer?
ENST00000356589.6:c.1225_1232del	ENSP00000348997.2:p.Lys409AlafsTer?
ENST00000371916.5:c.574_581del	ENSP00000360984.2:p.Lys192AlafsTer?
ENST00000371929.7:c.1318_1325del	ENSP00000360997.3:p.Lys440AlafsTer?
ENST00000474918.1:c.*122_*129del	ENSP00000435305.1:n.*122_*129del
ENST00000485925.5:n.974-2528_974-2521del
ENST00000495234.5:c.*602_*609del	ENSP00000435274.1:n.*602_*609del
NM_139025.4:c.1318_1325del , LRG_544t1:c.1318_1325del	NP_620594.1:p.Lys440AlafsTer?
NM_139026.4:c.1225_1232del	NP_620595.1:p.Lys409AlafsTer?
NM_139027.4:c.1318_1325del	NP_620596.2:p.Lys440AlafsTer?
NR_024514.2:n.993-2528_993-2521del
XM_011518174.1:c.928_935del	XP_011516476.1:p.Lys310AlafsTer?
XM_011518175.1:c.1318_1325del	XP_011516477.1:p.Lys440AlafsTer?
XM_011518176.1:c.334_341del	XP_011516478.1:p.Lys112AlafsTer?
XM_011518177.1:c.328_335del	XP_011516479.1:p.Lys110AlafsTer?
XM_011518178.1:c.-18_-11del	XP_011516480.1:n.-18_-11del
XM_011518179.1:c.104_111del	XP_011516481.1:p.Glu35GlyfsTer?
XM_011518180.1:c.687-8025_687-8018del	XP_011516482.1:n.687-8025_687-8018del
XM_011518176.3:c.334_341del	XP_011516478.1:p.Lys112AlafsTer?
XM_011518178.2:c.-18_-11del	XP_011516480.1:n.-18_-11del
XM_017014232.1:c.1306_1313del	XP_016869721.1:p.Lys436AlafsTer?
XM_017014233.1:c.928_935del	XP_016869722.1:p.Lys310AlafsTer?
XM_017014234.2:c.328_335del	XP_016869723.1:p.Lys110AlafsTer?
XM_017014235.1:c.1318_1325del	XP_016869724.1:p.Lys440AlafsTer?
XR_001746171.1:n.2543_2550del
NM_139026.5:c.1225_1232del	NP_620595.1:p.Lys409AlafsTer?
NM_139027.5:c.1318_1325del	NP_620596.2:p.Lys440AlafsTer?
NM_139025.5:c.1318_1325del	NP_620594.1:p.Lys440AlafsTer?
NM_139026.6:c.1225_1232del	NP_620595.1:p.Lys409AlafsTer?
NM_139027.6:c.1318_1325del MANE Select	NP_620596.2:p.Lys440AlafsTer?
NR_024514.3:n.995-2528_995-2521del