Canonical Allele Identifier: CA10633068

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133455452G>T , CM000671.2:g.133455452G>T	GRCh38
NC_000009.10:g.135310395G>T	NCBI36
NG_011934.2:g.46114G>T , LRG_544:g.46114G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3400+17G>T MANE Select	NP_620596.2:n.3400+17G>T
ENST00000355699.7:c.3400+17G>T MANE Select	ENSP00000347927.2:n.3400+17G>T
NM_139025.4:c.3417G>T , LRG_544t1:c.3417G>T	NP_620594.1:p.Val1139=
NM_139025.5:c.3417G>T	NP_620594.1:p.Val1139=
NM_139026.4:c.3307+17G>T	NP_620595.1:n.3307+17G>T
NM_139026.5:c.3307+17G>T	NP_620595.1:n.3307+17G>T
NM_139026.6:c.3307+17G>T	NP_620595.1:n.3307+17G>T
NM_139027.4:c.3400+17G>T	NP_620596.2:n.3400+17G>T
NM_139027.5:c.3400+17G>T	NP_620596.2:n.3400+17G>T
NR_024514.2:n.2235+17G>T
NR_024514.3:n.2237+17G>T
ENST00000355699.6:c.3400+17G>T	ENSP00000347927.2:n.3400+17G>T
ENST00000356589.6:c.3307+17G>T	ENSP00000348997.2:n.3307+17G>T
ENST00000371916.5:c.*869+17G>T	ENSP00000360984.2:n.*869+17G>T
ENST00000371929.7:c.3417G>T	ENSP00000360997.3:p.Val1139=
ENST00000485925.5:n.2216+17G>T
XM_011518174.1:c.3027G>T	XP_011516476.1:p.Val1009=
XM_011518175.1:c.3417G>T	XP_011516477.1:p.Val1139=
XM_011518176.1:c.2433G>T	XP_011516478.1:p.Val811=
XM_011518176.3:c.2433G>T	XP_011516478.1:p.Val811=
XM_011518177.1:c.2427G>T	XP_011516479.1:p.Val809=
XM_011518178.1:c.2082G>T	XP_011516480.1:p.Val694=
XM_011518178.2:c.2082G>T	XP_011516480.1:p.Val694=
XM_011518179.1:c.2082G>T	XP_011516481.1:p.Val694=
XM_011518180.1:c.1683G>T	XP_011516482.1:p.Val561=
XM_017014232.1:c.3405G>T	XP_016869721.1:p.Val1135=
XM_017014233.1:c.3027G>T	XP_016869722.1:p.Val1009=
XM_017014234.2:c.2427G>T	XP_016869723.1:p.Val809=