Canonical Allele Identifier: CA200946909

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133458077A>G , CM000671.2:g.133458077A>G	GRCh38
NC_000009.10:g.135313020A>G	NCBI36
NG_011934.2:g.48739A>G , LRG_544:g.48739A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.3892A>G MANE Select	NP_620596.2:p.Asn1298Asp
ENST00000355699.7:c.3892A>G MANE Select	ENSP00000347927.2:p.Asn1298Asp
NM_139025.4:c.4060A>G , LRG_544t1:c.4060A>G	NP_620594.1:p.Asn1354Asp
NM_139025.5:c.4060A>G	NP_620594.1:p.Asn1354Asp
NM_139026.4:c.3799A>G	NP_620595.1:p.Asn1267Asp
NM_139026.5:c.3799A>G	NP_620595.1:p.Asn1267Asp
NM_139026.6:c.3799A>G	NP_620595.1:p.Asn1267Asp
NM_139027.4:c.3892A>G	NP_620596.2:p.Asn1298Asp
NM_139027.5:c.3892A>G	NP_620596.2:p.Asn1298Asp
NR_024514.2:n.2560-897A>G
NR_024514.3:n.2562-897A>G
ENST00000355699.6:c.3892A>G	ENSP00000347927.2:p.Asn1298Asp
ENST00000356589.6:c.3799A>G	ENSP00000348997.2:p.Asn1267Asp
ENST00000371910.1:c.448A>G	ENSP00000360978.1:p.Asn150Asp
ENST00000371916.5:c.*1361A>G	ENSP00000360984.2:n.*1361A>G
ENST00000371929.7:c.4060A>G	ENSP00000360997.3:p.Asn1354Asp
ENST00000485925.5:n.2541-897A>G
XM_011518174.1:c.3670A>G	XP_011516476.1:p.Asn1224Asp
XM_011518176.1:c.3076A>G	XP_011516478.1:p.Asn1026Asp
XM_011518176.3:c.3076A>G	XP_011516478.1:p.Asn1026Asp
XM_011518177.1:c.3070A>G	XP_011516479.1:p.Asn1024Asp
XM_011518178.1:c.2725A>G	XP_011516480.1:p.Asn909Asp
XM_011518178.2:c.2725A>G	XP_011516480.1:p.Asn909Asp
XM_011518179.1:c.2725A>G	XP_011516481.1:p.Asn909Asp
XM_011518180.1:c.2326A>G	XP_011516482.1:p.Asn776Asp
XM_017014232.1:c.4048A>G	XP_016869721.1:p.Asn1350Asp
XM_017014233.1:c.3670A>G	XP_016869722.1:p.Asn1224Asp
XM_017014234.2:c.3070A>G	XP_016869723.1:p.Asn1024Asp