Canonical Allele Identifier: CA10626724

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133440338C>T , CM000671.2:g.133440338C>T	GRCh38
NC_000009.10:g.135295280C>T	NCBI36
NG_011934.2:g.31000C>T , LRG_544:g.31000C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1787-6C>T MANE Select	NP_620596.2:n.1787-6C>T
ENST00000355699.7:c.1787-6C>T MANE Select	ENSP00000347927.2:n.1787-6C>T
NM_139025.4:c.1787-6C>T , LRG_544t1:c.1787-6C>T	NP_620594.1:n.1787-6C>T
NM_139025.5:c.1787-6C>T	NP_620594.1:n.1787-6C>T
NM_139026.4:c.1694-6C>T	NP_620595.1:n.1694-6C>T
NM_139026.5:c.1694-6C>T	NP_620595.1:n.1694-6C>T
NM_139026.6:c.1694-6C>T	NP_620595.1:n.1694-6C>T
NM_139027.4:c.1787-6C>T	NP_620596.2:n.1787-6C>T
NM_139027.5:c.1787-6C>T	NP_620596.2:n.1787-6C>T
NR_024514.2:n.1074-6C>T
NR_024514.3:n.1076-6C>T
ENST00000355699.6:c.1787-6C>T	ENSP00000347927.2:n.1787-6C>T
ENST00000356589.6:c.1694-6C>T	ENSP00000348997.2:n.1694-6C>T
ENST00000371916.5:c.1043-6C>T	ENSP00000360984.2:n.1043-6C>T
ENST00000371929.7:c.1787-6C>T	ENSP00000360997.3:n.1787-6C>T
ENST00000474918.1:c.*591-6C>T	ENSP00000435305.1:n.*591-6C>T
ENST00000485925.5:n.1055-6C>T
ENST00000495234.5:c.*1071-6C>T	ENSP00000435274.1:n.*1071-6C>T
XM_011518174.1:c.1397-6C>T	XP_011516476.1:n.1397-6C>T
XM_011518175.1:c.1787-6C>T	XP_011516477.1:n.1787-6C>T
XM_011518176.1:c.803-6C>T	XP_011516478.1:n.803-6C>T
XM_011518176.3:c.803-6C>T	XP_011516478.1:n.803-6C>T
XM_011518177.1:c.797-6C>T	XP_011516479.1:n.797-6C>T
XM_011518178.1:c.452-6C>T	XP_011516480.1:n.452-6C>T
XM_011518178.2:c.452-6C>T	XP_011516480.1:n.452-6C>T
XM_011518179.1:c.452-6C>T	XP_011516481.1:n.452-6C>T
XM_011518180.1:c.687-4525C>T	XP_011516482.1:n.687-4525C>T
XM_017014232.1:c.1775-6C>T	XP_016869721.1:n.1775-6C>T
XM_017014233.1:c.1397-6C>T	XP_016869722.1:n.1397-6C>T
XM_017014234.2:c.797-6C>T	XP_016869723.1:n.797-6C>T
XM_017014235.1:c.1787-6C>T	XP_016869724.1:n.1787-6C>T
XR_001746171.1:n.3012-6C>T