Canonical Allele Identifier: CA1129745218

Gene: ADAMTS13

Linked Data

• gnomAD v3: 9-133454840-TGGAAG-T
• gnomAD v4: 9-133454840-TGGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454841_133454845del , CM000671.2:g.133454841_133454845del	GRCh38
NC_000009.10:g.135309784_135309788del	NCBI36
NG_011934.2:g.45503_45507del , LRG_544:g.45503_45507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3249+222_3249+226del MANE Select	ENSP00000347927.2:n.3249+222_3249+226del
ENST00000355699.6:c.3249+222_3249+226del	ENSP00000347927.2:n.3249+222_3249+226del
ENST00000356589.6:c.3156+222_3156+226del	ENSP00000348997.2:n.3156+222_3156+226del
ENST00000371916.5:c.*718+222_*718+226del	ENSP00000360984.2:n.*718+222_*718+226del
ENST00000371929.7:c.3249+222_3249+226del	ENSP00000360997.3:n.3249+222_3249+226del
ENST00000485925.5:n.2065+222_2065+226del
NM_139025.4:c.3249+222_3249+226del , LRG_544t1:c.3249+222_3249+226del	NP_620594.1:n.3249+222_3249+226del
NM_139026.4:c.3156+222_3156+226del	NP_620595.1:n.3156+222_3156+226del
NM_139027.4:c.3249+222_3249+226del	NP_620596.2:n.3249+222_3249+226del
NR_024514.2:n.2084+222_2084+226del
XM_011518174.1:c.2859+222_2859+226del	XP_011516476.1:n.2859+222_2859+226del
XM_011518175.1:c.3249+222_3249+226del	XP_011516477.1:n.3249+222_3249+226del
XM_011518176.1:c.2265+222_2265+226del	XP_011516478.1:n.2265+222_2265+226del
XM_011518177.1:c.2259+222_2259+226del	XP_011516479.1:n.2259+222_2259+226del
XM_011518178.1:c.1914+222_1914+226del	XP_011516480.1:n.1914+222_1914+226del
XM_011518179.1:c.1914+222_1914+226del	XP_011516481.1:n.1914+222_1914+226del
XM_011518180.1:c.1515+222_1515+226del	XP_011516482.1:n.1515+222_1515+226del
XM_011518176.3:c.2265+222_2265+226del	XP_011516478.1:n.2265+222_2265+226del
XM_011518178.2:c.1914+222_1914+226del	XP_011516480.1:n.1914+222_1914+226del
XM_017014232.1:c.3237+222_3237+226del	XP_016869721.1:n.3237+222_3237+226del
XM_017014233.1:c.2859+222_2859+226del	XP_016869722.1:n.2859+222_2859+226del
XM_017014234.2:c.2259+222_2259+226del	XP_016869723.1:n.2259+222_2259+226del
NM_139026.5:c.3156+222_3156+226del	NP_620595.1:n.3156+222_3156+226del
NM_139027.5:c.3249+222_3249+226del	NP_620596.2:n.3249+222_3249+226del
NM_139025.5:c.3249+222_3249+226del	NP_620594.1:n.3249+222_3249+226del
NM_139026.6:c.3156+222_3156+226del	NP_620595.1:n.3156+222_3156+226del
NM_139027.6:c.3249+222_3249+226del MANE Select	NP_620596.2:n.3249+222_3249+226del
NR_024514.3:n.2086+222_2086+226del