Canonical Allele Identifier: CA2840662960

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448768T>G , CM000671.2:g.133448768T>G	GRCh38
NC_000009.10:g.135303710T>G	NCBI36
NG_011934.2:g.39430T>G , LRG_544:g.39430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2861+40T>G MANE Select	ENSP00000347927.2:n.2861+40T>G
ENST00000355699.6:c.2861+40T>G	ENSP00000347927.2:n.2861+40T>G
ENST00000356589.6:c.2768+40T>G	ENSP00000348997.2:n.2768+40T>G
ENST00000371916.5:c.*330+40T>G	ENSP00000360984.2:n.*330+40T>G
ENST00000371929.7:c.2861+40T>G	ENSP00000360997.3:n.2861+40T>G
ENST00000485925.5:n.1677+40T>G
ENST00000495234.5:c.*1693+40T>G	ENSP00000435274.1:n.*1693+40T>G
NM_139025.4:c.2861+40T>G , LRG_544t1:c.2861+40T>G	NP_620594.1:n.2861+40T>G
NM_139026.4:c.2768+40T>G	NP_620595.1:n.2768+40T>G
NM_139027.4:c.2861+40T>G	NP_620596.2:n.2861+40T>G
NR_024514.2:n.1696+40T>G
XM_011518174.1:c.2471+40T>G	XP_011516476.1:n.2471+40T>G
XM_011518175.1:c.2861+40T>G	XP_011516477.1:n.2861+40T>G
XM_011518176.1:c.1877+40T>G	XP_011516478.1:n.1877+40T>G
XM_011518177.1:c.1871+40T>G	XP_011516479.1:n.1871+40T>G
XM_011518178.1:c.1526+40T>G	XP_011516480.1:n.1526+40T>G
XM_011518179.1:c.1526+40T>G	XP_011516481.1:n.1526+40T>G
XM_011518180.1:c.1127+40T>G	XP_011516482.1:n.1127+40T>G
XM_011518176.3:c.1877+40T>G	XP_011516478.1:n.1877+40T>G
XM_011518178.2:c.1526+40T>G	XP_011516480.1:n.1526+40T>G
XM_017014232.1:c.2849+40T>G	XP_016869721.1:n.2849+40T>G
XM_017014233.1:c.2471+40T>G	XP_016869722.1:n.2471+40T>G
XM_017014234.2:c.1871+40T>G	XP_016869723.1:n.1871+40T>G
XR_001746171.1:n.3634+40T>G
NM_139026.5:c.2768+40T>G	NP_620595.1:n.2768+40T>G
NM_139027.5:c.2861+40T>G	NP_620596.2:n.2861+40T>G
NM_139025.5:c.2861+40T>G	NP_620594.1:n.2861+40T>G
NM_139026.6:c.2768+40T>G	NP_620595.1:n.2768+40T>G
NM_139027.6:c.2861+40T>G MANE Select	NP_620596.2:n.2861+40T>G
NR_024514.3:n.1698+40T>G