Canonical Allele Identifier: CA2692371005

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133436849-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133436849G>T , CM000671.2:g.133436849G>T	GRCh38
NC_000009.10:g.135291790G>T	NCBI36
NG_011934.2:g.27511G>T , LRG_544:g.27511G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.1329G>T MANE Select	ENSP00000347927.2:p.Leu443=
ENST00000355699.6:c.1329G>T	ENSP00000347927.2:p.Leu443=
ENST00000356589.6:c.1236G>T	ENSP00000348997.2:p.Leu412=
ENST00000371916.5:c.585G>T	ENSP00000360984.2:p.Leu195=
ENST00000371929.7:c.1329G>T	ENSP00000360997.3:p.Leu443=
ENST00000474918.1:c.*133G>T	ENSP00000435305.1:n.*133G>T
ENST00000485925.5:n.974-2517G>T
ENST00000495234.5:c.*613G>T	ENSP00000435274.1:n.*613G>T
NM_139025.4:c.1329G>T , LRG_544t1:c.1329G>T	NP_620594.1:p.Leu443=
NM_139026.4:c.1236G>T	NP_620595.1:p.Leu412=
NM_139027.4:c.1329G>T	NP_620596.2:p.Leu443=
NR_024514.2:n.993-2517G>T
XM_011518174.1:c.939G>T	XP_011516476.1:p.Leu313=
XM_011518175.1:c.1329G>T	XP_011516477.1:p.Leu443=
XM_011518176.1:c.345G>T	XP_011516478.1:p.Leu115=
XM_011518177.1:c.339G>T	XP_011516479.1:p.Leu113=
XM_011518178.1:c.-7G>T	XP_011516480.1:n.-7G>T
XM_011518179.1:c.115G>T	XP_011516481.1:p.Gly39Ter
XM_011518180.1:c.687-8014G>T	XP_011516482.1:n.687-8014G>T
XM_011518176.3:c.345G>T	XP_011516478.1:p.Leu115=
XM_011518178.2:c.-7G>T	XP_011516480.1:n.-7G>T
XM_017014232.1:c.1317G>T	XP_016869721.1:p.Leu439=
XM_017014233.1:c.939G>T	XP_016869722.1:p.Leu313=
XM_017014234.2:c.339G>T	XP_016869723.1:p.Leu113=
XM_017014235.1:c.1329G>T	XP_016869724.1:p.Leu443=
XR_001746171.1:n.2554G>T
NM_139026.5:c.1236G>T	NP_620595.1:p.Leu412=
NM_139027.5:c.1329G>T	NP_620596.2:p.Leu443=
NM_139025.5:c.1329G>T	NP_620594.1:p.Leu443=
NM_139026.6:c.1236G>T	NP_620595.1:p.Leu412=
NM_139027.6:c.1329G>T MANE Select	NP_620596.2:p.Leu443=
NR_024514.3:n.995-2517G>T