Canonical Allele Identifier: CA375393311

Gene: ADAMTS13

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133438245G>C , CM000671.2:g.133438245G>C	GRCh38
NC_000009.10:g.135293186G>C	NCBI36
NG_011934.2:g.28907G>C , LRG_544:g.28907G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_139027.6:c.1585-1G>C MANE Select	NP_620596.2:n.1585-1G>C
ENST00000355699.7:c.1585-1G>C MANE Select	ENSP00000347927.2:n.1585-1G>C
NM_139025.4:c.1585-1G>C , LRG_544t1:c.1585-1G>C	NP_620594.1:n.1585-1G>C
NM_139025.5:c.1585-1G>C	NP_620594.1:n.1585-1G>C
NM_139026.4:c.1492-1G>C	NP_620595.1:n.1492-1G>C
NM_139026.5:c.1492-1G>C	NP_620595.1:n.1492-1G>C
NM_139026.6:c.1492-1G>C	NP_620595.1:n.1492-1G>C
NM_139027.4:c.1585-1G>C	NP_620596.2:n.1585-1G>C
NM_139027.5:c.1585-1G>C	NP_620596.2:n.1585-1G>C
NR_024514.2:n.993-1121G>C
NR_024514.3:n.995-1121G>C
ENST00000355699.6:c.1585-1G>C	ENSP00000347927.2:n.1585-1G>C
ENST00000356589.6:c.1492-1G>C	ENSP00000348997.2:n.1492-1G>C
ENST00000371916.5:c.841-1G>C	ENSP00000360984.2:n.841-1G>C
ENST00000371929.7:c.1585-1G>C	ENSP00000360997.3:n.1585-1G>C
ENST00000474918.1:c.*389-1G>C	ENSP00000435305.1:n.*389-1G>C
ENST00000485925.5:n.974-1121G>C
ENST00000495234.5:c.*869-1G>C	ENSP00000435274.1:n.*869-1G>C
XM_011518174.1:c.1195-1G>C	XP_011516476.1:n.1195-1G>C
XM_011518175.1:c.1585-1G>C	XP_011516477.1:n.1585-1G>C
XM_011518176.1:c.601-1G>C	XP_011516478.1:n.601-1G>C
XM_011518176.3:c.601-1G>C	XP_011516478.1:n.601-1G>C
XM_011518177.1:c.595-1G>C	XP_011516479.1:n.595-1G>C
XM_011518178.1:c.250-1G>C	XP_011516480.1:n.250-1G>C
XM_011518178.2:c.250-1G>C	XP_011516480.1:n.250-1G>C
XM_011518179.1:c.370+348G>C	XP_011516481.1:n.370+348G>C
XM_011518180.1:c.687-6618G>C	XP_011516482.1:n.687-6618G>C
XM_017014232.1:c.1573-1G>C	XP_016869721.1:n.1573-1G>C
XM_017014233.1:c.1195-1G>C	XP_016869722.1:n.1195-1G>C
XM_017014234.2:c.595-1G>C	XP_016869723.1:n.595-1G>C
XM_017014235.1:c.1585-1G>C	XP_016869724.1:n.1585-1G>C
XR_001746171.1:n.2810-1G>C