Canonical Allele Identifier: CA1882673163

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436917_133436920delinsCCTT , CM000671.2:g.133436917_133436920delinsCCTT	GRCh38
NC_000009.10:g.135291858_135291861delinsCCTT	NCBI36
NG_011934.2:g.27579_27582delinsCCTT , LRG_544:g.27579_27582delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1397_1400delinsCCTT MANE Select	ENSP00000347927.2:p.Ser466=
ENST00000355699.6:c.1397_1400delinsCCTT	ENSP00000347927.2:p.Ser466=
ENST00000356589.6:c.1304_1307delinsCCTT	ENSP00000348997.2:p.Ser435=
ENST00000371916.5:c.653_656delinsCCTT	ENSP00000360984.2:p.Ser218=
ENST00000371929.7:c.1397_1400delinsCCTT	ENSP00000360997.3:p.Ser466=
ENST00000474918.1:c.*201_*204delinsCCTT	ENSP00000435305.1:n.*201_*204delinsCCTT
ENST00000485925.5:n.974-2449_974-2446delinsCCTT
ENST00000495234.5:c.*681_*684delinsCCTT	ENSP00000435274.1:n.*681_*684delinsCCTT
NM_139025.4:c.1397_1400delinsCCTT , LRG_544t1:c.1397_1400delinsCCTT	NP_620594.1:p.Ser466=
NM_139026.4:c.1304_1307delinsCCTT	NP_620595.1:p.Ser435=
NM_139027.4:c.1397_1400delinsCCTT	NP_620596.2:p.Ser466=
NR_024514.2:n.993-2449_993-2446delinsCCTT
XM_011518174.1:c.1007_1010delinsCCTT	XP_011516476.1:p.Ser336=
XM_011518175.1:c.1397_1400delinsCCTT	XP_011516477.1:p.Ser466=
XM_011518176.1:c.413_416delinsCCTT	XP_011516478.1:p.Ser138=
XM_011518177.1:c.407_410delinsCCTT	XP_011516479.1:p.Ser136=
XM_011518178.1:c.62_65delinsCCTT	XP_011516480.1:p.Ser21=
XM_011518179.1:c.183_186delinsCCTT	XP_011516481.1:p.Leu61=
XM_011518180.1:c.687-7946_687-7943delinsCCTT	XP_011516482.1:n.687-7946_687-7943delinsCCTT
XM_011518176.3:c.413_416delinsCCTT	XP_011516478.1:p.Ser138=
XM_011518178.2:c.62_65delinsCCTT	XP_011516480.1:p.Ser21=
XM_017014232.1:c.1385_1388delinsCCTT	XP_016869721.1:p.Ser462=
XM_017014233.1:c.1007_1010delinsCCTT	XP_016869722.1:p.Ser336=
XM_017014234.2:c.407_410delinsCCTT	XP_016869723.1:p.Ser136=
XM_017014235.1:c.1397_1400delinsCCTT	XP_016869724.1:p.Ser466=
XR_001746171.1:n.2622_2625delinsCCTT
NM_139026.5:c.1304_1307delinsCCTT	NP_620595.1:p.Ser435=
NM_139027.5:c.1397_1400delinsCCTT	NP_620596.2:p.Ser466=
NM_139025.5:c.1397_1400delinsCCTT	NP_620594.1:p.Ser466=
NM_139026.6:c.1304_1307delinsCCTT	NP_620595.1:p.Ser435=
NM_139027.6:c.1397_1400delinsCCTT MANE Select	NP_620596.2:p.Ser466=
NR_024514.3:n.995-2449_995-2446delinsCCTT