Canonical Allele Identifier: CA1129743551

Gene: ADAMTS13

Linked Data

• dbSNP Id: rs1841279846
• gnomAD v3: 9-133436917-CCTT-C
• gnomAD v4: 9-133436917-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436920_133436922del , CM000671.2:g.133436920_133436922del	GRCh38
NC_000009.10:g.135291861_135291863del	NCBI36
NG_011934.2:g.27582_27584del , LRG_544:g.27582_27584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1400_1402del MANE Select	ENSP00000347927.2:p.Phe467del
ENST00000355699.6:c.1400_1402del	ENSP00000347927.2:p.Phe467del
ENST00000356589.6:c.1307_1309del	ENSP00000348997.2:p.Phe436del
ENST00000371916.5:c.656_658del	ENSP00000360984.2:p.Phe219del
ENST00000371929.7:c.1400_1402del	ENSP00000360997.3:p.Phe467del
ENST00000474918.1:c.*204_*206del	ENSP00000435305.1:n.*204_*206del
ENST00000485925.5:n.974-2446_974-2444del
ENST00000495234.5:c.*684_*686del	ENSP00000435274.1:n.*684_*686del
NM_139025.4:c.1400_1402del , LRG_544t1:c.1400_1402del	NP_620594.1:p.Phe467del
NM_139026.4:c.1307_1309del	NP_620595.1:p.Phe436del
NM_139027.4:c.1400_1402del	NP_620596.2:p.Phe467del
NR_024514.2:n.993-2446_993-2444del
XM_011518174.1:c.1010_1012del	XP_011516476.1:p.Phe337del
XM_011518175.1:c.1400_1402del	XP_011516477.1:p.Phe467del
XM_011518176.1:c.416_418del	XP_011516478.1:p.Phe139del
XM_011518177.1:c.410_412del	XP_011516479.1:p.Phe137del
XM_011518178.1:c.65_67del	XP_011516480.1:p.Phe22del
XM_011518179.1:c.186_188del	XP_011516481.1:p.Leu63del
XM_011518180.1:c.687-7943_687-7941del	XP_011516482.1:n.687-7943_687-7941del
XM_011518176.3:c.416_418del	XP_011516478.1:p.Phe139del
XM_011518178.2:c.65_67del	XP_011516480.1:p.Phe22del
XM_017014232.1:c.1388_1390del	XP_016869721.1:p.Phe463del
XM_017014233.1:c.1010_1012del	XP_016869722.1:p.Phe337del
XM_017014234.2:c.410_412del	XP_016869723.1:p.Phe137del
XM_017014235.1:c.1400_1402del	XP_016869724.1:p.Phe467del
XR_001746171.1:n.2625_2627del
NM_139026.5:c.1307_1309del	NP_620595.1:p.Phe436del
NM_139027.5:c.1400_1402del	NP_620596.2:p.Phe467del
NM_139025.5:c.1400_1402del	NP_620594.1:p.Phe467del
NM_139026.6:c.1307_1309del	NP_620595.1:p.Phe436del
NM_139027.6:c.1400_1402del MANE Select	NP_620596.2:p.Phe467del
NR_024514.3:n.995-2446_995-2444del