Canonical Allele Identifier: CA2692370883

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436824-GCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436825_133436906del , CM000671.2:g.133436825_133436906del	GRCh38
NC_000009.10:g.135291766_135291847del	NCBI36
NG_011934.2:g.27487_27568del , LRG_544:g.27487_27568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1309-4_1386del
ENST00000355699.6:c.1309-4_1386del
ENST00000356589.6:c.1216-4_1293del
ENST00000371916.5:c.565-4_642del
ENST00000371929.7:c.1309-4_1386del
ENST00000474918.1:c.*113-4_*190del
ENST00000485925.5:n.974-2541_974-2460del
ENST00000495234.5:c.*593-4_*670del
NM_139025.4:c.1309-4_1386del , LRG_544t1:c.1309-4_1386del
NM_139026.4:c.1216-4_1293del
NM_139027.4:c.1309-4_1386del
NR_024514.2:n.993-2541_993-2460del
XM_011518174.1:c.919-4_996del
XM_011518175.1:c.1309-4_1386del
XM_011518176.1:c.325-4_402del
XM_011518177.1:c.319-4_396del
XM_011518178.1:c.-27-4_51del
XM_011518179.1:c.95-4_172del
XM_011518180.1:c.687-8038_687-7957del	XP_011516482.1:n.687-8038_687-7957del
XM_011518176.3:c.325-4_402del
XM_011518178.2:c.-27-4_51del
XM_017014232.1:c.1297-4_1374del
XM_017014233.1:c.919-4_996del
XM_017014234.2:c.319-4_396del
XM_017014235.1:c.1309-4_1386del
XR_001746171.1:n.2534-4_2611del
NM_139026.5:c.1216-4_1293del
NM_139027.5:c.1309-4_1386del
NM_139025.5:c.1309-4_1386del
NM_139026.6:c.1216-4_1293del
NM_139027.6:c.1309-4_1386del
NR_024514.3:n.995-2541_995-2460del