Canonical Allele Identifier: CA375394024

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133438367G>A , CM000671.2:g.133438367G>A	GRCh38
NC_000009.10:g.135293308G>A	NCBI36
NG_011934.2:g.29029G>A , LRG_544:g.29029G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1705+1G>A MANE Select	NP_620596.2:n.1705+1G>A
ENST00000355699.7:c.1705+1G>A MANE Select	ENSP00000347927.2:n.1705+1G>A
NM_139025.4:c.1705+1G>A , LRG_544t1:c.1705+1G>A	NP_620594.1:n.1705+1G>A
NM_139025.5:c.1705+1G>A	NP_620594.1:n.1705+1G>A
NM_139026.4:c.1612+1G>A	NP_620595.1:n.1612+1G>A
NM_139026.5:c.1612+1G>A	NP_620595.1:n.1612+1G>A
NM_139026.6:c.1612+1G>A	NP_620595.1:n.1612+1G>A
NM_139027.4:c.1705+1G>A	NP_620596.2:n.1705+1G>A
NM_139027.5:c.1705+1G>A	NP_620596.2:n.1705+1G>A
NR_024514.2:n.993-999G>A
NR_024514.3:n.995-999G>A
ENST00000355699.6:c.1705+1G>A	ENSP00000347927.2:n.1705+1G>A
ENST00000356589.6:c.1612+1G>A	ENSP00000348997.2:n.1612+1G>A
ENST00000371916.5:c.961+1G>A	ENSP00000360984.2:n.961+1G>A
ENST00000371929.7:c.1705+1G>A	ENSP00000360997.3:n.1705+1G>A
ENST00000474918.1:c.*509+1G>A	ENSP00000435305.1:n.*509+1G>A
ENST00000485925.5:n.974-999G>A
ENST00000495234.5:c.*989+1G>A	ENSP00000435274.1:n.*989+1G>A
XM_011518174.1:c.1315+1G>A	XP_011516476.1:n.1315+1G>A
XM_011518175.1:c.1705+1G>A	XP_011516477.1:n.1705+1G>A
XM_011518176.1:c.721+1G>A	XP_011516478.1:n.721+1G>A
XM_011518176.3:c.721+1G>A	XP_011516478.1:n.721+1G>A
XM_011518177.1:c.715+1G>A	XP_011516479.1:n.715+1G>A
XM_011518178.1:c.370+1G>A	XP_011516480.1:n.370+1G>A
XM_011518178.2:c.370+1G>A	XP_011516480.1:n.370+1G>A
XM_011518179.1:c.370+470G>A	XP_011516481.1:n.370+470G>A
XM_011518180.1:c.687-6496G>A	XP_011516482.1:n.687-6496G>A
XM_017014232.1:c.1693+1G>A	XP_016869721.1:n.1693+1G>A
XM_017014233.1:c.1315+1G>A	XP_016869722.1:n.1315+1G>A
XM_017014234.2:c.715+1G>A	XP_016869723.1:n.715+1G>A
XM_017014235.1:c.1705+1G>A	XP_016869724.1:n.1705+1G>A
XR_001746171.1:n.2930+1G>A