Canonical Allele Identifier: CA1882681649

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454542C= , CM000671.2:g.133454542C=	GRCh38
NC_000009.10:g.135309485C=	NCBI36
NG_011934.2:g.45204C= , LRG_544:g.45204C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3172C= MANE Select	ENSP00000347927.2:p.Leu1058=
ENST00000355699.6:c.3172C=	ENSP00000347927.2:p.Leu1058=
ENST00000356589.6:c.3079C=	ENSP00000348997.2:p.Leu1027=
ENST00000371916.5:c.*641C=	ENSP00000360984.2:n.*641C=
ENST00000371929.7:c.3172C=	ENSP00000360997.3:p.Leu1058=
ENST00000485925.5:n.1988C=
NM_139025.4:c.3172C= , LRG_544t1:c.3172C=	NP_620594.1:p.Leu1058=
NM_139026.4:c.3079C=	NP_620595.1:p.Leu1027=
NM_139027.4:c.3172C=	NP_620596.2:p.Leu1058=
NR_024514.2:n.2007C=
XM_011518174.1:c.2782C=	XP_011516476.1:p.Leu928=
XM_011518175.1:c.3172C=	XP_011516477.1:p.Leu1058=
XM_011518176.1:c.2188C=	XP_011516478.1:p.Leu730=
XM_011518177.1:c.2182C=	XP_011516479.1:p.Leu728=
XM_011518178.1:c.1837C=	XP_011516480.1:p.Leu613=
XM_011518179.1:c.1837C=	XP_011516481.1:p.Leu613=
XM_011518180.1:c.1438C=	XP_011516482.1:p.Leu480=
XM_011518176.3:c.2188C=	XP_011516478.1:p.Leu730=
XM_011518178.2:c.1837C=	XP_011516480.1:p.Leu613=
XM_017014232.1:c.3160C=	XP_016869721.1:p.Leu1054=
XM_017014233.1:c.2782C=	XP_016869722.1:p.Leu928=
XM_017014234.2:c.2182C=	XP_016869723.1:p.Leu728=
NM_139026.5:c.3079C=	NP_620595.1:p.Leu1027=
NM_139027.5:c.3172C=	NP_620596.2:p.Leu1058=
NM_139025.5:c.3172C=	NP_620594.1:p.Leu1058=
NM_139026.6:c.3079C=	NP_620595.1:p.Leu1027=
NM_139027.6:c.3172C= MANE Select	NP_620596.2:p.Leu1058=
NR_024514.3:n.2009C=