Canonical Allele Identifier: CA1129745223

Gene: ADAMTS13

Linked Data

• gnomAD v3: 9-133454849-A-AT
• gnomAD v4: 9-133454849-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454849_133454850insT , CM000671.2:g.133454849_133454850insT	GRCh38
NC_000009.10:g.135309792_135309793insT	NCBI36
NG_011934.2:g.45511_45512insT , LRG_544:g.45511_45512insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+230_3249+231insT MANE Select	ENSP00000347927.2:n.3249+230_3249+231insT
ENST00000355699.6:c.3249+230_3249+231insT	ENSP00000347927.2:n.3249+230_3249+231insT
ENST00000356589.6:c.3156+230_3156+231insT	ENSP00000348997.2:n.3156+230_3156+231insT
ENST00000371916.5:c.*718+230_*718+231insT	ENSP00000360984.2:n.*718+230_*718+231insT
ENST00000371929.7:c.3249+230_3249+231insT	ENSP00000360997.3:n.3249+230_3249+231insT
ENST00000485925.5:n.2065+230_2065+231insT
NM_139025.4:c.3249+230_3249+231insT , LRG_544t1:c.3249+230_3249+231insT	NP_620594.1:n.3249+230_3249+231insT
NM_139026.4:c.3156+230_3156+231insT	NP_620595.1:n.3156+230_3156+231insT
NM_139027.4:c.3249+230_3249+231insT	NP_620596.2:n.3249+230_3249+231insT
NR_024514.2:n.2084+230_2084+231insT
XM_011518174.1:c.2859+230_2859+231insT	XP_011516476.1:n.2859+230_2859+231insT
XM_011518175.1:c.3249+230_3249+231insT	XP_011516477.1:n.3249+230_3249+231insT
XM_011518176.1:c.2265+230_2265+231insT	XP_011516478.1:n.2265+230_2265+231insT
XM_011518177.1:c.2259+230_2259+231insT	XP_011516479.1:n.2259+230_2259+231insT
XM_011518178.1:c.1914+230_1914+231insT	XP_011516480.1:n.1914+230_1914+231insT
XM_011518179.1:c.1914+230_1914+231insT	XP_011516481.1:n.1914+230_1914+231insT
XM_011518180.1:c.1515+230_1515+231insT	XP_011516482.1:n.1515+230_1515+231insT
XM_011518176.3:c.2265+230_2265+231insT	XP_011516478.1:n.2265+230_2265+231insT
XM_011518178.2:c.1914+230_1914+231insT	XP_011516480.1:n.1914+230_1914+231insT
XM_017014232.1:c.3237+230_3237+231insT	XP_016869721.1:n.3237+230_3237+231insT
XM_017014233.1:c.2859+230_2859+231insT	XP_016869722.1:n.2859+230_2859+231insT
XM_017014234.2:c.2259+230_2259+231insT	XP_016869723.1:n.2259+230_2259+231insT
NM_139026.5:c.3156+230_3156+231insT	NP_620595.1:n.3156+230_3156+231insT
NM_139027.5:c.3249+230_3249+231insT	NP_620596.2:n.3249+230_3249+231insT
NM_139025.5:c.3249+230_3249+231insT	NP_620594.1:n.3249+230_3249+231insT
NM_139026.6:c.3156+230_3156+231insT	NP_620595.1:n.3156+230_3156+231insT
NM_139027.6:c.3249+230_3249+231insT MANE Select	NP_620596.2:n.3249+230_3249+231insT
NR_024514.3:n.2086+230_2086+231insT