Canonical Allele Identifier: CA1882681586

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454423_133454429delinsTCATGTC , CM000671.2:g.133454423_133454429delinsTCATGTC	GRCh38
NC_000009.10:g.135309366_135309372delinsTCATGTC	NCBI36
NG_011934.2:g.45085_45091delinsTCATGTC , LRG_544:g.45085_45091delinsTCATGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3053_3059delinsTCATGTC MANE Select	ENSP00000347927.2:p.Val1018=
ENST00000355699.6:c.3053_3059delinsTCATGTC	ENSP00000347927.2:p.Val1018=
ENST00000356589.6:c.2960_2966delinsTCATGTC	ENSP00000348997.2:p.Val987=
ENST00000371916.5:c.*522_*528delinsTCATGTC	ENSP00000360984.2:n.*522_*528delinsTCATGTC
ENST00000371929.7:c.3053_3059delinsTCATGTC	ENSP00000360997.3:p.Val1018=
ENST00000485925.5:n.1869_1875delinsTCATGTC
NM_139025.4:c.3053_3059delinsTCATGTC , LRG_544t1:c.3053_3059delinsTCATGTC	NP_620594.1:p.Val1018=
NM_139026.4:c.2960_2966delinsTCATGTC	NP_620595.1:p.Val987=
NM_139027.4:c.3053_3059delinsTCATGTC	NP_620596.2:p.Val1018=
NR_024514.2:n.1888_1894delinsTCATGTC
XM_011518174.1:c.2663_2669delinsTCATGTC	XP_011516476.1:p.Val888=
XM_011518175.1:c.3053_3059delinsTCATGTC	XP_011516477.1:p.Val1018=
XM_011518176.1:c.2069_2075delinsTCATGTC	XP_011516478.1:p.Val690=
XM_011518177.1:c.2063_2069delinsTCATGTC	XP_011516479.1:p.Val688=
XM_011518178.1:c.1718_1724delinsTCATGTC	XP_011516480.1:p.Val573=
XM_011518179.1:c.1718_1724delinsTCATGTC	XP_011516481.1:p.Val573=
XM_011518180.1:c.1319_1325delinsTCATGTC	XP_011516482.1:p.Val440=
XM_011518176.3:c.2069_2075delinsTCATGTC	XP_011516478.1:p.Val690=
XM_011518178.2:c.1718_1724delinsTCATGTC	XP_011516480.1:p.Val573=
XM_017014232.1:c.3041_3047delinsTCATGTC	XP_016869721.1:p.Val1014=
XM_017014233.1:c.2663_2669delinsTCATGTC	XP_016869722.1:p.Val888=
XM_017014234.2:c.2063_2069delinsTCATGTC	XP_016869723.1:p.Val688=
XR_001746171.1:n.3826_3832delinsTCATGTC
NM_139026.5:c.2960_2966delinsTCATGTC	NP_620595.1:p.Val987=
NM_139027.5:c.3053_3059delinsTCATGTC	NP_620596.2:p.Val1018=
NM_139025.5:c.3053_3059delinsTCATGTC	NP_620594.1:p.Val1018=
NM_139026.6:c.2960_2966delinsTCATGTC	NP_620595.1:p.Val987=
NM_139027.6:c.3053_3059delinsTCATGTC MANE Select	NP_620596.2:p.Val1018=
NR_024514.3:n.1890_1896delinsTCATGTC