Canonical Allele Identifier: CA212840
Gene: ADAMTS13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133425613G>A , CM000671.2:g.133425613G>A GRCh38
NC_000009.10:g.135280554G>A NCBI36
NG_011934.2:g.16275G>A , LRG_544:g.16275G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355699.7:c.414+1G>A MANE Select ENSP00000347927.2:n.414+1G>A
ENST00000355699.6:c.414+1G>A ENSP00000347927.2:n.414+1G>A
ENST00000356589.6:c.414+1G>A ENSP00000348997.2:n.414+1G>A
ENST00000371911.7:c.414+1G>A ENSP00000360979.3:n.414+1G>A
ENST00000371916.5:c.-331+1G>A ENSP00000360984.2:n.-331+1G>A
ENST00000371929.7:c.414+1G>A ENSP00000360997.3:n.414+1G>A
ENST00000474918.1:c.414+1G>A ENSP00000435305.1:n.414+1G>A
ENST00000485925.5:n.596+1G>A
ENST00000495234.5:c.414+1G>A ENSP00000435274.1:n.414+1G>A
NM_139025.4:c.414+1G>A , LRG_544t1:c.414+1G>A NP_620594.1:n.414+1G>A
NM_139026.4:c.414+1G>A NP_620595.1:n.414+1G>A
NM_139027.4:c.414+1G>A NP_620596.2:n.414+1G>A
NR_024514.2:n.615+1G>A
XM_011518174.1:c.24+1G>A XP_011516476.1:n.24+1G>A
XM_011518175.1:c.414+1G>A XP_011516477.1:n.414+1G>A
XM_011518180.1:c.414+1G>A XP_011516482.1:n.414+1G>A
XM_017014232.1:c.402+1G>A XP_016869721.1:n.402+1G>A
XM_017014233.1:c.24+1G>A XP_016869722.1:n.24+1G>A
XM_017014234.2:c.-151+1G>A XP_016869723.1:n.-151+1G>A
XM_017014235.1:c.414+1G>A XP_016869724.1:n.414+1G>A
XR_001746171.1:n.1639+1G>A
NM_139026.5:c.414+1G>A NP_620595.1:n.414+1G>A
NM_139027.5:c.414+1G>A NP_620596.2:n.414+1G>A
NM_139025.5:c.414+1G>A NP_620594.1:n.414+1G>A
NM_139026.6:c.414+1G>A NP_620595.1:n.414+1G>A
NM_139027.6:c.414+1G>A MANE Select NP_620596.2:n.414+1G>A
NR_024514.3:n.617+1G>A
Search 100 bp 5'
Search 100 bp 3'