Canonical Allele Identifier: CA918570610

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1588206219

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454425_133454430del , CM000671.2:g.133454425_133454430del	GRCh38
NC_000009.10:g.135309368_135309373del	NCBI36
NG_011934.2:g.45087_45092del , LRG_544:g.45087_45092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3055_3060del MANE Select	ENSP00000347927.2:p.Met1019_Ser1020del
ENST00000355699.6:c.3055_3060del	ENSP00000347927.2:p.Met1019_Ser1020del
ENST00000356589.6:c.2962_2967del	ENSP00000348997.2:p.Met988_Ser989del
ENST00000371916.5:c.*524_*529del	ENSP00000360984.2:n.*524_*529del
ENST00000371929.7:c.3055_3060del	ENSP00000360997.3:p.Met1019_Ser1020del
ENST00000485925.5:n.1871_1876del
NM_139025.4:c.3055_3060del , LRG_544t1:c.3055_3060del	NP_620594.1:p.Met1019_Ser1020del
NM_139026.4:c.2962_2967del	NP_620595.1:p.Met988_Ser989del
NM_139027.4:c.3055_3060del	NP_620596.2:p.Met1019_Ser1020del
NR_024514.2:n.1890_1895del
XM_011518174.1:c.2665_2670del	XP_011516476.1:p.Met889_Ser890del
XM_011518175.1:c.3055_3060del	XP_011516477.1:p.Met1019_Ser1020del
XM_011518176.1:c.2071_2076del	XP_011516478.1:p.Met691_Ser692del
XM_011518177.1:c.2065_2070del	XP_011516479.1:p.Met689_Ser690del
XM_011518178.1:c.1720_1725del	XP_011516480.1:p.Met574_Ser575del
XM_011518179.1:c.1720_1725del	XP_011516481.1:p.Met574_Ser575del
XM_011518180.1:c.1321_1326del	XP_011516482.1:p.Met441_Ser442del
XM_011518176.3:c.2071_2076del	XP_011516478.1:p.Met691_Ser692del
XM_011518178.2:c.1720_1725del	XP_011516480.1:p.Met574_Ser575del
XM_017014232.1:c.3043_3048del	XP_016869721.1:p.Met1015_Ser1016del
XM_017014233.1:c.2665_2670del	XP_016869722.1:p.Met889_Ser890del
XM_017014234.2:c.2065_2070del	XP_016869723.1:p.Met689_Ser690del
XR_001746171.1:n.3828_3833del
NM_139026.5:c.2962_2967del	NP_620595.1:p.Met988_Ser989del
NM_139027.5:c.3055_3060del	NP_620596.2:p.Met1019_Ser1020del
NM_139025.5:c.3055_3060del	NP_620594.1:p.Met1019_Ser1020del
NM_139026.6:c.2962_2967del	NP_620595.1:p.Met988_Ser989del
NM_139027.6:c.3055_3060del MANE Select	NP_620596.2:p.Met1019_Ser1020del
NR_024514.3:n.1892_1897del