Canonical Allele Identifier: CA860742495

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1321377614
• gnomAD v3: 9-133454726-AAAGG-A
• gnomAD v4: 9-133454726-AAAGG-A
• MyVariant Identifiers: chr9:g.133454727_133454730del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454732_133454735del , CM000671.2:g.133454732_133454735del	GRCh38
NC_000009.10:g.135309675_135309678del	NCBI36
NG_011934.2:g.45394_45397del , LRG_544:g.45394_45397del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+113_3249+116del MANE Select	ENSP00000347927.2:n.3249+113_3249+116del
ENST00000355699.6:c.3249+113_3249+116del	ENSP00000347927.2:n.3249+113_3249+116del
ENST00000356589.6:c.3156+113_3156+116del	ENSP00000348997.2:n.3156+113_3156+116del
ENST00000371916.5:c.*718+113_*718+116del	ENSP00000360984.2:n.*718+113_*718+116del
ENST00000371929.7:c.3249+113_3249+116del	ENSP00000360997.3:n.3249+113_3249+116del
ENST00000485925.5:n.2065+113_2065+116del
NM_139025.4:c.3249+113_3249+116del , LRG_544t1:c.3249+113_3249+116del	NP_620594.1:n.3249+113_3249+116del
NM_139026.4:c.3156+113_3156+116del	NP_620595.1:n.3156+113_3156+116del
NM_139027.4:c.3249+113_3249+116del	NP_620596.2:n.3249+113_3249+116del
NR_024514.2:n.2084+113_2084+116del
XM_011518174.1:c.2859+113_2859+116del	XP_011516476.1:n.2859+113_2859+116del
XM_011518175.1:c.3249+113_3249+116del	XP_011516477.1:n.3249+113_3249+116del
XM_011518176.1:c.2265+113_2265+116del	XP_011516478.1:n.2265+113_2265+116del
XM_011518177.1:c.2259+113_2259+116del	XP_011516479.1:n.2259+113_2259+116del
XM_011518178.1:c.1914+113_1914+116del	XP_011516480.1:n.1914+113_1914+116del
XM_011518179.1:c.1914+113_1914+116del	XP_011516481.1:n.1914+113_1914+116del
XM_011518180.1:c.1515+113_1515+116del	XP_011516482.1:n.1515+113_1515+116del
XM_011518176.3:c.2265+113_2265+116del	XP_011516478.1:n.2265+113_2265+116del
XM_011518178.2:c.1914+113_1914+116del	XP_011516480.1:n.1914+113_1914+116del
XM_017014232.1:c.3237+113_3237+116del	XP_016869721.1:n.3237+113_3237+116del
XM_017014233.1:c.2859+113_2859+116del	XP_016869722.1:n.2859+113_2859+116del
XM_017014234.2:c.2259+113_2259+116del	XP_016869723.1:n.2259+113_2259+116del
NM_139026.5:c.3156+113_3156+116del	NP_620595.1:n.3156+113_3156+116del
NM_139027.5:c.3249+113_3249+116del	NP_620596.2:n.3249+113_3249+116del
NM_139025.5:c.3249+113_3249+116del	NP_620594.1:n.3249+113_3249+116del
NM_139026.6:c.3156+113_3156+116del	NP_620595.1:n.3156+113_3156+116del
NM_139027.6:c.3249+113_3249+116del MANE Select	NP_620596.2:n.3249+113_3249+116del
NR_024514.3:n.2086+113_2086+116del