Canonical Allele Identifier: CA200929716

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs782472621
• gnomAD v4: 9-133436954-A-AG
• MyVariant Identifiers: chr9:g.133436954_133436955insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436956dup , CM000671.2:g.133436956dup	GRCh38
NC_000009.10:g.135291897dup	NCBI36
NG_011934.2:g.27618dup , LRG_544:g.27618dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1435+1dup
ENST00000355699.6:c.1435+1dup
ENST00000356589.6:c.1342+1dup
ENST00000371916.5:c.691+1dup
ENST00000371929.7:c.1435+1dup
ENST00000474918.1:c.*239+1dup
ENST00000485925.5:n.974-2410dup
ENST00000495234.5:c.*719+1dup
NM_139025.4:c.1435+1dup , LRG_544t1:c.1435+1dup
NM_139026.4:c.1342+1dup
NM_139027.4:c.1435+1dup
NR_024514.2:n.993-2410dup
XM_011518174.1:c.1045+1dup
XM_011518175.1:c.1435+1dup
XM_011518176.1:c.451+1dup
XM_011518177.1:c.445+1dup
XM_011518178.1:c.100+1dup
XM_011518179.1:c.221+1dup
XM_011518180.1:c.687-7907dup	XP_011516482.1:n.687-7907dup
XM_011518176.3:c.451+1dup
XM_011518178.2:c.100+1dup
XM_017014232.1:c.1423+1dup
XM_017014233.1:c.1045+1dup
XM_017014234.2:c.445+1dup
XM_017014235.1:c.1435+1dup
XR_001746171.1:n.2660+1dup
NM_139026.5:c.1342+1dup
NM_139027.5:c.1435+1dup
NM_139025.5:c.1435+1dup
NM_139026.6:c.1342+1dup
NM_139027.6:c.1435+1dup
NR_024514.3:n.995-2410dup