Canonical Allele Identifier: CA2786169823

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454391C>G , CM000671.2:g.133454391C>G	GRCh38
NC_000009.10:g.135309334C>G	NCBI36
NG_011934.2:g.45053C>G , LRG_544:g.45053C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3045-24C>G MANE Select	ENSP00000347927.2:n.3045-24C>G
ENST00000355699.6:c.3045-24C>G	ENSP00000347927.2:n.3045-24C>G
ENST00000356589.6:c.2952-24C>G	ENSP00000348997.2:n.2952-24C>G
ENST00000371916.5:c.*514-24C>G	ENSP00000360984.2:n.*514-24C>G
ENST00000371929.7:c.3045-24C>G	ENSP00000360997.3:n.3045-24C>G
ENST00000485925.5:n.1861-24C>G
NM_139025.4:c.3045-24C>G , LRG_544t1:c.3045-24C>G	NP_620594.1:n.3045-24C>G
NM_139026.4:c.2952-24C>G	NP_620595.1:n.2952-24C>G
NM_139027.4:c.3045-24C>G	NP_620596.2:n.3045-24C>G
NR_024514.2:n.1880-24C>G
XM_011518174.1:c.2655-24C>G	XP_011516476.1:n.2655-24C>G
XM_011518175.1:c.3045-24C>G	XP_011516477.1:n.3045-24C>G
XM_011518176.1:c.2061-24C>G	XP_011516478.1:n.2061-24C>G
XM_011518177.1:c.2055-24C>G	XP_011516479.1:n.2055-24C>G
XM_011518178.1:c.1710-24C>G	XP_011516480.1:n.1710-24C>G
XM_011518179.1:c.1710-24C>G	XP_011516481.1:n.1710-24C>G
XM_011518180.1:c.1311-24C>G	XP_011516482.1:n.1311-24C>G
XM_011518176.3:c.2061-24C>G	XP_011516478.1:n.2061-24C>G
XM_011518178.2:c.1710-24C>G	XP_011516480.1:n.1710-24C>G
XM_017014232.1:c.3033-24C>G	XP_016869721.1:n.3033-24C>G
XM_017014233.1:c.2655-24C>G	XP_016869722.1:n.2655-24C>G
XM_017014234.2:c.2055-24C>G	XP_016869723.1:n.2055-24C>G
XR_001746171.1:n.3818-24C>G
NM_139026.5:c.2952-24C>G	NP_620595.1:n.2952-24C>G
NM_139027.5:c.3045-24C>G	NP_620596.2:n.3045-24C>G
NM_139025.5:c.3045-24C>G	NP_620594.1:n.3045-24C>G
NM_139026.6:c.2952-24C>G	NP_620595.1:n.2952-24C>G
NM_139027.6:c.3045-24C>G MANE Select	NP_620596.2:n.3045-24C>G
NR_024514.3:n.1882-24C>G