Canonical Allele Identifier: CA2692362053

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454672-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454672G>T , CM000671.2:g.133454672G>T	GRCh38
NC_000009.10:g.135309615G>T	NCBI36
NG_011934.2:g.45334G>T , LRG_544:g.45334G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+53G>T MANE Select	ENSP00000347927.2:n.3249+53G>T
ENST00000355699.6:c.3249+53G>T	ENSP00000347927.2:n.3249+53G>T
ENST00000356589.6:c.3156+53G>T	ENSP00000348997.2:n.3156+53G>T
ENST00000371916.5:c.*718+53G>T	ENSP00000360984.2:n.*718+53G>T
ENST00000371929.7:c.3249+53G>T	ENSP00000360997.3:n.3249+53G>T
ENST00000485925.5:n.2065+53G>T
NM_139025.4:c.3249+53G>T , LRG_544t1:c.3249+53G>T	NP_620594.1:n.3249+53G>T
NM_139026.4:c.3156+53G>T	NP_620595.1:n.3156+53G>T
NM_139027.4:c.3249+53G>T	NP_620596.2:n.3249+53G>T
NR_024514.2:n.2084+53G>T
XM_011518174.1:c.2859+53G>T	XP_011516476.1:n.2859+53G>T
XM_011518175.1:c.3249+53G>T	XP_011516477.1:n.3249+53G>T
XM_011518176.1:c.2265+53G>T	XP_011516478.1:n.2265+53G>T
XM_011518177.1:c.2259+53G>T	XP_011516479.1:n.2259+53G>T
XM_011518178.1:c.1914+53G>T	XP_011516480.1:n.1914+53G>T
XM_011518179.1:c.1914+53G>T	XP_011516481.1:n.1914+53G>T
XM_011518180.1:c.1515+53G>T	XP_011516482.1:n.1515+53G>T
XM_011518176.3:c.2265+53G>T	XP_011516478.1:n.2265+53G>T
XM_011518178.2:c.1914+53G>T	XP_011516480.1:n.1914+53G>T
XM_017014232.1:c.3237+53G>T	XP_016869721.1:n.3237+53G>T
XM_017014233.1:c.2859+53G>T	XP_016869722.1:n.2859+53G>T
XM_017014234.2:c.2259+53G>T	XP_016869723.1:n.2259+53G>T
NM_139026.5:c.3156+53G>T	NP_620595.1:n.3156+53G>T
NM_139027.5:c.3249+53G>T	NP_620596.2:n.3249+53G>T
NM_139025.5:c.3249+53G>T	NP_620594.1:n.3249+53G>T
NM_139026.6:c.3156+53G>T	NP_620595.1:n.3156+53G>T
NM_139027.6:c.3249+53G>T MANE Select	NP_620596.2:n.3249+53G>T
NR_024514.3:n.2086+53G>T