Canonical Allele Identifier: CA375410941

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454612G>A , CM000671.2:g.133454612G>A	GRCh38
NC_000009.10:g.135309555G>A	NCBI36
NG_011934.2:g.45274G>A , LRG_544:g.45274G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3242G>A MANE Select	NP_620596.2:p.Trp1081Ter
ENST00000355699.7:c.3242G>A MANE Select	ENSP00000347927.2:p.Trp1081Ter
NM_139025.4:c.3242G>A , LRG_544t1:c.3242G>A	NP_620594.1:p.Trp1081Ter
NM_139025.5:c.3242G>A	NP_620594.1:p.Trp1081Ter
NM_139026.4:c.3149G>A	NP_620595.1:p.Trp1050Ter
NM_139026.5:c.3149G>A	NP_620595.1:p.Trp1050Ter
NM_139026.6:c.3149G>A	NP_620595.1:p.Trp1050Ter
NM_139027.4:c.3242G>A	NP_620596.2:p.Trp1081Ter
NM_139027.5:c.3242G>A	NP_620596.2:p.Trp1081Ter
NR_024514.2:n.2077G>A
NR_024514.3:n.2079G>A
ENST00000355699.6:c.3242G>A	ENSP00000347927.2:p.Trp1081Ter
ENST00000356589.6:c.3149G>A	ENSP00000348997.2:p.Trp1050Ter
ENST00000371916.5:c.*711G>A	ENSP00000360984.2:n.*711G>A
ENST00000371929.7:c.3242G>A	ENSP00000360997.3:p.Trp1081Ter
ENST00000485925.5:n.2058G>A
XM_011518174.1:c.2852G>A	XP_011516476.1:p.Trp951Ter
XM_011518175.1:c.3242G>A	XP_011516477.1:p.Trp1081Ter
XM_011518176.1:c.2258G>A	XP_011516478.1:p.Trp753Ter
XM_011518176.3:c.2258G>A	XP_011516478.1:p.Trp753Ter
XM_011518177.1:c.2252G>A	XP_011516479.1:p.Trp751Ter
XM_011518178.1:c.1907G>A	XP_011516480.1:p.Trp636Ter
XM_011518178.2:c.1907G>A	XP_011516480.1:p.Trp636Ter
XM_011518179.1:c.1907G>A	XP_011516481.1:p.Trp636Ter
XM_011518180.1:c.1508G>A	XP_011516482.1:p.Trp503Ter
XM_017014232.1:c.3230G>A	XP_016869721.1:p.Trp1077Ter
XM_017014233.1:c.2852G>A	XP_016869722.1:p.Trp951Ter
XM_017014234.2:c.2252G>A	XP_016869723.1:p.Trp751Ter