Canonical Allele Identifier: CA1882681768

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454780_133454782delinsCAG , CM000671.2:g.133454780_133454782delinsCAG	GRCh38
NC_000009.10:g.135309723_135309725delinsCAG	NCBI36
NG_011934.2:g.45442_45444delinsCAG , LRG_544:g.45442_45444delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+161_3249+163delinsCAG MANE Select	ENSP00000347927.2:n.3249+161_3249+163delinsCAG
ENST00000355699.6:c.3249+161_3249+163delinsCAG	ENSP00000347927.2:n.3249+161_3249+163delinsCAG
ENST00000356589.6:c.3156+161_3156+163delinsCAG	ENSP00000348997.2:n.3156+161_3156+163delinsCAG
ENST00000371916.5:c.*718+161_*718+163delinsCAG	ENSP00000360984.2:n.*718+161_*718+163delinsCAG
ENST00000371929.7:c.3249+161_3249+163delinsCAG	ENSP00000360997.3:n.3249+161_3249+163delinsCAG
ENST00000485925.5:n.2065+161_2065+163delinsCAG
NM_139025.4:c.3249+161_3249+163delinsCAG , LRG_544t1:c.3249+161_3249+163delinsCAG	NP_620594.1:n.3249+161_3249+163delinsCAG
NM_139026.4:c.3156+161_3156+163delinsCAG	NP_620595.1:n.3156+161_3156+163delinsCAG
NM_139027.4:c.3249+161_3249+163delinsCAG	NP_620596.2:n.3249+161_3249+163delinsCAG
NR_024514.2:n.2084+161_2084+163delinsCAG
XM_011518174.1:c.2859+161_2859+163delinsCAG	XP_011516476.1:n.2859+161_2859+163delinsCAG
XM_011518175.1:c.3249+161_3249+163delinsCAG	XP_011516477.1:n.3249+161_3249+163delinsCAG
XM_011518176.1:c.2265+161_2265+163delinsCAG	XP_011516478.1:n.2265+161_2265+163delinsCAG
XM_011518177.1:c.2259+161_2259+163delinsCAG	XP_011516479.1:n.2259+161_2259+163delinsCAG
XM_011518178.1:c.1914+161_1914+163delinsCAG	XP_011516480.1:n.1914+161_1914+163delinsCAG
XM_011518179.1:c.1914+161_1914+163delinsCAG	XP_011516481.1:n.1914+161_1914+163delinsCAG
XM_011518180.1:c.1515+161_1515+163delinsCAG	XP_011516482.1:n.1515+161_1515+163delinsCAG
XM_011518176.3:c.2265+161_2265+163delinsCAG	XP_011516478.1:n.2265+161_2265+163delinsCAG
XM_011518178.2:c.1914+161_1914+163delinsCAG	XP_011516480.1:n.1914+161_1914+163delinsCAG
XM_017014232.1:c.3237+161_3237+163delinsCAG	XP_016869721.1:n.3237+161_3237+163delinsCAG
XM_017014233.1:c.2859+161_2859+163delinsCAG	XP_016869722.1:n.2859+161_2859+163delinsCAG
XM_017014234.2:c.2259+161_2259+163delinsCAG	XP_016869723.1:n.2259+161_2259+163delinsCAG
NM_139026.5:c.3156+161_3156+163delinsCAG	NP_620595.1:n.3156+161_3156+163delinsCAG
NM_139027.5:c.3249+161_3249+163delinsCAG	NP_620596.2:n.3249+161_3249+163delinsCAG
NM_139025.5:c.3249+161_3249+163delinsCAG	NP_620594.1:n.3249+161_3249+163delinsCAG
NM_139026.6:c.3156+161_3156+163delinsCAG	NP_620595.1:n.3156+161_3156+163delinsCAG
NM_139027.6:c.3249+161_3249+163delinsCAG MANE Select	NP_620596.2:n.3249+161_3249+163delinsCAG
NR_024514.3:n.2086+161_2086+163delinsCAG