Canonical Allele Identifier: CA1129745221

Gene: ADAMTS13

Linked Data

• gnomAD v3: 9-133454845-G-GTTTTA
• gnomAD v4: 9-133454845-G-GTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454845_133454846insTTTTA , CM000671.2:g.133454845_133454846insTTTTA	GRCh38
NC_000009.10:g.135309788_135309789insTTTTA	NCBI36
NG_011934.2:g.45507_45508insTTTTA , LRG_544:g.45507_45508insTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+226_3249+227insTTTTA MANE Select	ENSP00000347927.2:n.3249+226_3249+227insTTTTA
ENST00000355699.6:c.3249+226_3249+227insTTTTA	ENSP00000347927.2:n.3249+226_3249+227insTTTTA
ENST00000356589.6:c.3156+226_3156+227insTTTTA	ENSP00000348997.2:n.3156+226_3156+227insTTTTA
ENST00000371916.5:c.*718+226_*718+227insTTTTA	ENSP00000360984.2:n.*718+226_*718+227insTTTTA
ENST00000371929.7:c.3249+226_3249+227insTTTTA	ENSP00000360997.3:n.3249+226_3249+227insTTTTA
ENST00000485925.5:n.2065+226_2065+227insTTTTA
NM_139025.4:c.3249+226_3249+227insTTTTA , LRG_544t1:c.3249+226_3249+227insTTTTA	NP_620594.1:n.3249+226_3249+227insTTTTA
NM_139026.4:c.3156+226_3156+227insTTTTA	NP_620595.1:n.3156+226_3156+227insTTTTA
NM_139027.4:c.3249+226_3249+227insTTTTA	NP_620596.2:n.3249+226_3249+227insTTTTA
NR_024514.2:n.2084+226_2084+227insTTTTA
XM_011518174.1:c.2859+226_2859+227insTTTTA	XP_011516476.1:n.2859+226_2859+227insTTTTA
XM_011518175.1:c.3249+226_3249+227insTTTTA	XP_011516477.1:n.3249+226_3249+227insTTTTA
XM_011518176.1:c.2265+226_2265+227insTTTTA	XP_011516478.1:n.2265+226_2265+227insTTTTA
XM_011518177.1:c.2259+226_2259+227insTTTTA	XP_011516479.1:n.2259+226_2259+227insTTTTA
XM_011518178.1:c.1914+226_1914+227insTTTTA	XP_011516480.1:n.1914+226_1914+227insTTTTA
XM_011518179.1:c.1914+226_1914+227insTTTTA	XP_011516481.1:n.1914+226_1914+227insTTTTA
XM_011518180.1:c.1515+226_1515+227insTTTTA	XP_011516482.1:n.1515+226_1515+227insTTTTA
XM_011518176.3:c.2265+226_2265+227insTTTTA	XP_011516478.1:n.2265+226_2265+227insTTTTA
XM_011518178.2:c.1914+226_1914+227insTTTTA	XP_011516480.1:n.1914+226_1914+227insTTTTA
XM_017014232.1:c.3237+226_3237+227insTTTTA	XP_016869721.1:n.3237+226_3237+227insTTTTA
XM_017014233.1:c.2859+226_2859+227insTTTTA	XP_016869722.1:n.2859+226_2859+227insTTTTA
XM_017014234.2:c.2259+226_2259+227insTTTTA	XP_016869723.1:n.2259+226_2259+227insTTTTA
NM_139026.5:c.3156+226_3156+227insTTTTA	NP_620595.1:n.3156+226_3156+227insTTTTA
NM_139027.5:c.3249+226_3249+227insTTTTA	NP_620596.2:n.3249+226_3249+227insTTTTA
NM_139025.5:c.3249+226_3249+227insTTTTA	NP_620594.1:n.3249+226_3249+227insTTTTA
NM_139026.6:c.3156+226_3156+227insTTTTA	NP_620595.1:n.3156+226_3156+227insTTTTA
NM_139027.6:c.3249+226_3249+227insTTTTA MANE Select	NP_620596.2:n.3249+226_3249+227insTTTTA
NR_024514.3:n.2086+226_2086+227insTTTTA