Canonical Allele Identifier: CA3260266652
Community Standard Title: NM_139027.6(ADAMTS13):c.1341_1342delinsAG (p.Gln448Glu)
Gene: ADAMTS13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133436861_133436862delinsAG , CM000671.2:g.133436861_133436862delinsAG GRCh38
NC_000009.10:g.135291802_135291803delinsAG NCBI36
NG_011934.2:g.27523_27524delinsAG , LRG_544:g.27523_27524delinsAG

Transcript Alleles

HGVS Amino-acid Change
NM_139027.6:c.1341_1342delinsAG MANE Select NP_620596.2:p.Gln448Glu
ENST00000355699.7:c.1341_1342delinsAG MANE Select ENSP00000347927.2:p.Gln448Glu
NM_139025.4:c.1341_1342delinsAG , LRG_544t1:c.1341_1342delinsAG NP_620594.1:p.Gln448Glu
NM_139025.5:c.1341_1342delinsAG NP_620594.1:p.Gln448Glu
NM_139026.4:c.1248_1249delinsAG NP_620595.1:p.Gln417Glu
NM_139026.5:c.1248_1249delinsAG NP_620595.1:p.Gln417Glu
NM_139026.6:c.1248_1249delinsAG NP_620595.1:p.Gln417Glu
NM_139027.4:c.1341_1342delinsAG NP_620596.2:p.Gln448Glu
NM_139027.5:c.1341_1342delinsAG NP_620596.2:p.Gln448Glu
NR_024514.2:n.993-2505_993-2504delinsAG
NR_024514.3:n.995-2505_995-2504delinsAG
ENST00000355699.6:c.1341_1342delinsAG ENSP00000347927.2:p.Gln448Glu
ENST00000356589.6:c.1248_1249delinsAG ENSP00000348997.2:p.Gln417Glu
ENST00000371916.5:c.597_598delinsAG ENSP00000360984.2:p.Gln200Glu
ENST00000371929.7:c.1341_1342delinsAG ENSP00000360997.3:p.Gln448Glu
ENST00000474918.1:c.*145_*146delinsAG ENSP00000435305.1:n.*145_*146delinsAG
ENST00000485925.5:n.974-2505_974-2504delinsAG
ENST00000495234.5:c.*625_*626delinsAG ENSP00000435274.1:n.*625_*626delinsAG
XM_011518174.1:c.951_952delinsAG XP_011516476.1:p.Gln318Glu
XM_011518175.1:c.1341_1342delinsAG XP_011516477.1:p.Gln448Glu
XM_011518176.1:c.357_358delinsAG XP_011516478.1:p.Gln120Glu
XM_011518176.3:c.357_358delinsAG XP_011516478.1:p.Gln120Glu
XM_011518177.1:c.351_352delinsAG XP_011516479.1:p.Gln118Glu
XM_011518178.1:c.6_7delinsAG XP_011516480.1:p.Gln3Glu
XM_011518178.2:c.6_7delinsAG XP_011516480.1:p.Gln3Glu
XM_011518179.1:c.127_128delinsAG XP_011516481.1:p.Ala43Arg
XM_011518180.1:c.687-8002_687-8001delinsAG XP_011516482.1:n.687-8002_687-8001delinsAG
XM_017014232.1:c.1329_1330delinsAG XP_016869721.1:p.Gln444Glu
XM_017014233.1:c.951_952delinsAG XP_016869722.1:p.Gln318Glu
XM_017014234.2:c.351_352delinsAG XP_016869723.1:p.Gln118Glu
XM_017014235.1:c.1341_1342delinsAG XP_016869724.1:p.Gln448Glu
XR_001746171.1:n.2566_2567delinsAG