Canonical Allele Identifier: CA2692369326

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436776-ACACCCGCCCCCCGCCCCACCGCCATCCCCCTCCTCTGCCTCCTCCTGGCCAGGCCTGCGAGAAGACCCAGCTGGAGTTCATGTCGCAACAGTGCGCCAGGACCGACGGCCAGCCGCTGCGCTCCTCCCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436777_133436906del , CM000671.2:g.133436777_133436906del	GRCh38
NC_000009.10:g.135291718_135291847del	NCBI36
NG_011934.2:g.27439_27568del , LRG_544:g.27439_27568del

Transcript Alleles

HGVS	Amino-acid change
ENST00000355699.7:c.1309-52_1386del
ENST00000355699.6:c.1309-52_1386del
ENST00000356589.6:c.1216-52_1293del
ENST00000371916.5:c.565-52_642del
ENST00000371929.7:c.1309-52_1386del
ENST00000474918.1:c.*113-52_*190del
ENST00000485925.5:n.974-2589_974-2460del
ENST00000495234.5:c.*593-52_*670del
NM_139025.4:c.1309-52_1386del , LRG_544t1:c.1309-52_1386del
NM_139026.4:c.1216-52_1293del
NM_139027.4:c.1309-52_1386del
NR_024514.2:n.993-2589_993-2460del
XM_011518174.1:c.919-52_996del
XM_011518175.1:c.1309-52_1386del
XM_011518176.1:c.325-52_402del
XM_011518177.1:c.319-52_396del
XM_011518178.1:c.-27-52_51del
XM_011518179.1:c.95-52_172del
XM_011518180.1:c.687-8086_687-7957del	XP_011516482.1:n.687-8086_687-7957del
XM_011518176.3:c.325-52_402del
XM_011518178.2:c.-27-52_51del
XM_017014232.1:c.1297-52_1374del
XM_017014233.1:c.919-52_996del
XM_017014234.2:c.319-52_396del
XM_017014235.1:c.1309-52_1386del
XR_001746171.1:n.2534-52_2611del
NM_139026.5:c.1216-52_1293del
NM_139027.5:c.1309-52_1386del
NM_139025.5:c.1309-52_1386del
NM_139026.6:c.1216-52_1293del
NM_139027.6:c.1309-52_1386del
NR_024514.3:n.995-2589_995-2460del