Canonical Allele Identifier: CA1882681806

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454863_133454864delinsCA , CM000671.2:g.133454863_133454864delinsCA	GRCh38
NC_000009.10:g.135309806_135309807delinsCA	NCBI36
NG_011934.2:g.45525_45526delinsCA , LRG_544:g.45525_45526delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+244_3249+245delinsCA MANE Select	ENSP00000347927.2:n.3249+244_3249+245delinsCA
ENST00000355699.6:c.3249+244_3249+245delinsCA	ENSP00000347927.2:n.3249+244_3249+245delinsCA
ENST00000356589.6:c.3156+244_3156+245delinsCA	ENSP00000348997.2:n.3156+244_3156+245delinsCA
ENST00000371916.5:c.*718+244_*718+245delinsCA	ENSP00000360984.2:n.*718+244_*718+245delinsCA
ENST00000371929.7:c.3249+244_3249+245delinsCA	ENSP00000360997.3:n.3249+244_3249+245delinsCA
ENST00000485925.5:n.2065+244_2065+245delinsCA
NM_139025.4:c.3249+244_3249+245delinsCA , LRG_544t1:c.3249+244_3249+245delinsCA	NP_620594.1:n.3249+244_3249+245delinsCA
NM_139026.4:c.3156+244_3156+245delinsCA	NP_620595.1:n.3156+244_3156+245delinsCA
NM_139027.4:c.3249+244_3249+245delinsCA	NP_620596.2:n.3249+244_3249+245delinsCA
NR_024514.2:n.2084+244_2084+245delinsCA
XM_011518174.1:c.2859+244_2859+245delinsCA	XP_011516476.1:n.2859+244_2859+245delinsCA
XM_011518175.1:c.3249+244_3249+245delinsCA	XP_011516477.1:n.3249+244_3249+245delinsCA
XM_011518176.1:c.2265+244_2265+245delinsCA	XP_011516478.1:n.2265+244_2265+245delinsCA
XM_011518177.1:c.2259+244_2259+245delinsCA	XP_011516479.1:n.2259+244_2259+245delinsCA
XM_011518178.1:c.1914+244_1914+245delinsCA	XP_011516480.1:n.1914+244_1914+245delinsCA
XM_011518179.1:c.1914+244_1914+245delinsCA	XP_011516481.1:n.1914+244_1914+245delinsCA
XM_011518180.1:c.1515+244_1515+245delinsCA	XP_011516482.1:n.1515+244_1515+245delinsCA
XM_011518176.3:c.2265+244_2265+245delinsCA	XP_011516478.1:n.2265+244_2265+245delinsCA
XM_011518178.2:c.1914+244_1914+245delinsCA	XP_011516480.1:n.1914+244_1914+245delinsCA
XM_017014232.1:c.3237+244_3237+245delinsCA	XP_016869721.1:n.3237+244_3237+245delinsCA
XM_017014233.1:c.2859+244_2859+245delinsCA	XP_016869722.1:n.2859+244_2859+245delinsCA
XM_017014234.2:c.2259+244_2259+245delinsCA	XP_016869723.1:n.2259+244_2259+245delinsCA
NM_139026.5:c.3156+244_3156+245delinsCA	NP_620595.1:n.3156+244_3156+245delinsCA
NM_139027.5:c.3249+244_3249+245delinsCA	NP_620596.2:n.3249+244_3249+245delinsCA
NM_139025.5:c.3249+244_3249+245delinsCA	NP_620594.1:n.3249+244_3249+245delinsCA
NM_139026.6:c.3156+244_3156+245delinsCA	NP_620595.1:n.3156+244_3156+245delinsCA
NM_139027.6:c.3249+244_3249+245delinsCA MANE Select	NP_620596.2:n.3249+244_3249+245delinsCA
NR_024514.3:n.2086+244_2086+245delinsCA