Canonical Allele Identifier: CA2692370909

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436829-GCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCTGGCGGCGCCTCCTTCTACCACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436830_133436928del , CM000671.2:g.133436830_133436928del	GRCh38
NC_000009.10:g.135291771_135291869del	NCBI36
NG_011934.2:g.27492_27590del , LRG_544:g.27492_27590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1310_1408del MANE Select	ENSP00000347927.2:p.Ala437_Trp470delinsGly
ENST00000355699.6:c.1310_1408del	ENSP00000347927.2:p.Ala437_Trp470delinsGly
ENST00000356589.6:c.1217_1315del	ENSP00000348997.2:p.Ala406_Trp439delinsGly
ENST00000371916.5:c.566_664del	ENSP00000360984.2:p.Ala189_Trp222delinsGly
ENST00000371929.7:c.1310_1408del	ENSP00000360997.3:p.Ala437_Trp470delinsGly
ENST00000474918.1:c.*114_*212del	ENSP00000435305.1:n.*114_*212del
ENST00000485925.5:n.974-2536_974-2438del
ENST00000495234.5:c.*594_*692del	ENSP00000435274.1:n.*594_*692del
NM_139025.4:c.1310_1408del , LRG_544t1:c.1310_1408del	NP_620594.1:p.Ala437_Trp470delinsGly
NM_139026.4:c.1217_1315del	NP_620595.1:p.Ala406_Trp439delinsGly
NM_139027.4:c.1310_1408del	NP_620596.2:p.Ala437_Trp470delinsGly
NR_024514.2:n.993-2536_993-2438del
XM_011518174.1:c.920_1018del	XP_011516476.1:p.Ala307_Trp340delinsGly
XM_011518175.1:c.1310_1408del	XP_011516477.1:p.Ala437_Trp470delinsGly
XM_011518176.1:c.326_424del	XP_011516478.1:p.Ala109_Trp142delinsGly
XM_011518177.1:c.320_418del	XP_011516479.1:p.Ala107_Trp140delinsGly
XM_011518178.1:c.-26_73del
XM_011518179.1:c.96_194del	XP_011516481.1:p.Leu33_Leu65del
XM_011518180.1:c.687-8033_687-7935del	XP_011516482.1:n.687-8033_687-7935del
XM_011518176.3:c.326_424del	XP_011516478.1:p.Ala109_Trp142delinsGly
XM_011518178.2:c.-26_73del
XM_017014232.1:c.1298_1396del	XP_016869721.1:p.Ala433_Trp466delinsGly
XM_017014233.1:c.920_1018del	XP_016869722.1:p.Ala307_Trp340delinsGly
XM_017014234.2:c.320_418del	XP_016869723.1:p.Ala107_Trp140delinsGly
XM_017014235.1:c.1310_1408del	XP_016869724.1:p.Ala437_Trp470delinsGly
XR_001746171.1:n.2535_2633del
NM_139026.5:c.1217_1315del	NP_620595.1:p.Ala406_Trp439delinsGly
NM_139027.5:c.1310_1408del	NP_620596.2:p.Ala437_Trp470delinsGly
NM_139025.5:c.1310_1408del	NP_620594.1:p.Ala437_Trp470delinsGly
NM_139026.6:c.1217_1315del	NP_620595.1:p.Ala406_Trp439delinsGly
NM_139027.6:c.1310_1408del MANE Select	NP_620596.2:p.Ala437_Trp470delinsGly
NR_024514.3:n.995-2536_995-2438del