Canonical Allele Identifier: CA2692361503

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133454508-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133454508G>A , CM000671.2:g.133454508G>A	GRCh38
NC_000009.10:g.135309451G>A	NCBI36
NG_011934.2:g.45170G>A , LRG_544:g.45170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.3138G>A MANE Select	ENSP00000347927.2:p.Gln1046=
ENST00000355699.6:c.3138G>A	ENSP00000347927.2:p.Gln1046=
ENST00000356589.6:c.3045G>A	ENSP00000348997.2:p.Gln1015=
ENST00000371916.5:c.*607G>A	ENSP00000360984.2:n.*607G>A
ENST00000371929.7:c.3138G>A	ENSP00000360997.3:p.Gln1046=
ENST00000485925.5:n.1954G>A
NM_139025.4:c.3138G>A , LRG_544t1:c.3138G>A	NP_620594.1:p.Gln1046=
NM_139026.4:c.3045G>A	NP_620595.1:p.Gln1015=
NM_139027.4:c.3138G>A	NP_620596.2:p.Gln1046=
NR_024514.2:n.1973G>A
XM_011518174.1:c.2748G>A	XP_011516476.1:p.Gln916=
XM_011518175.1:c.3138G>A	XP_011516477.1:p.Gln1046=
XM_011518176.1:c.2154G>A	XP_011516478.1:p.Gln718=
XM_011518177.1:c.2148G>A	XP_011516479.1:p.Gln716=
XM_011518178.1:c.1803G>A	XP_011516480.1:p.Gln601=
XM_011518179.1:c.1803G>A	XP_011516481.1:p.Gln601=
XM_011518180.1:c.1404G>A	XP_011516482.1:p.Gln468=
XM_011518176.3:c.2154G>A	XP_011516478.1:p.Gln718=
XM_011518178.2:c.1803G>A	XP_011516480.1:p.Gln601=
XM_017014232.1:c.3126G>A	XP_016869721.1:p.Gln1042=
XM_017014233.1:c.2748G>A	XP_016869722.1:p.Gln916=
XM_017014234.2:c.2148G>A	XP_016869723.1:p.Gln716=
NM_139026.5:c.3045G>A	NP_620595.1:p.Gln1015=
NM_139027.5:c.3138G>A	NP_620596.2:p.Gln1046=
NM_139025.5:c.3138G>A	NP_620594.1:p.Gln1046=
NM_139026.6:c.3045G>A	NP_620595.1:p.Gln1015=
NM_139027.6:c.3138G>A MANE Select	NP_620596.2:p.Gln1046=
NR_024514.3:n.1975G>A