Canonical Allele Identifier: CA2692373013

Gene: ADAMTS13

Linked Data

• gnomAD v4: 9-133448731-G-GGCAGTACAAGCTGGCGGCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133448731_133448732insGCAGTACAAGCTGGCGGCCTGC , CM000671.2:g.133448731_133448732insGCAGTACAAGCTGGCGGCCTGC	GRCh38
NC_000009.10:g.135303673_135303674insGCAGTACAAGCTGGCGGCCTGC	NCBI36
NG_011934.2:g.39393_39394insGCAGTACAAGCTGGCGGCCTGC , LRG_544:g.39393_39394insGCAGTACAAGCTGGCGGCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355699.7:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC MANE Select	ENSP00000347927.2:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000355699.6:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	ENSP00000347927.2:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000356589.6:c.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC	ENSP00000348997.2:n.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000371916.5:c.*330+3_*330+4insGCAGTACAAGCTGGCGGCCTGC	ENSP00000360984.2:n.*330+3_*330+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000371929.7:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	ENSP00000360997.3:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000485925.5:n.1677+3_1677+4insGCAGTACAAGCTGGCGGCCTGC
ENST00000495234.5:c.*1693+3_*1693+4insGCAGTACAAGCTGGCGGCCTGC	ENSP00000435274.1:n.*1693+3_*1693+4insGCAGTACAAGCTGGCGGCCTGC
NM_139025.4:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC , LRG_544t1:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	NP_620594.1:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
NM_139026.4:c.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC	NP_620595.1:n.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC
NM_139027.4:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	NP_620596.2:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
NR_024514.2:n.1696+3_1696+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518174.1:c.2471+3_2471+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516476.1:n.2471+3_2471+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518175.1:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516477.1:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518176.1:c.1877+3_1877+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516478.1:n.1877+3_1877+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518177.1:c.1871+3_1871+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516479.1:n.1871+3_1871+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518178.1:c.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516480.1:n.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518179.1:c.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516481.1:n.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518180.1:c.1127+3_1127+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516482.1:n.1127+3_1127+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518176.3:c.1877+3_1877+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516478.1:n.1877+3_1877+4insGCAGTACAAGCTGGCGGCCTGC
XM_011518178.2:c.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC	XP_011516480.1:n.1526+3_1526+4insGCAGTACAAGCTGGCGGCCTGC
XM_017014232.1:c.2849+3_2849+4insGCAGTACAAGCTGGCGGCCTGC	XP_016869721.1:n.2849+3_2849+4insGCAGTACAAGCTGGCGGCCTGC
XM_017014233.1:c.2471+3_2471+4insGCAGTACAAGCTGGCGGCCTGC	XP_016869722.1:n.2471+3_2471+4insGCAGTACAAGCTGGCGGCCTGC
XM_017014234.2:c.1871+3_1871+4insGCAGTACAAGCTGGCGGCCTGC	XP_016869723.1:n.1871+3_1871+4insGCAGTACAAGCTGGCGGCCTGC
XR_001746171.1:n.3634+3_3634+4insGCAGTACAAGCTGGCGGCCTGC
NM_139026.5:c.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC	NP_620595.1:n.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC
NM_139027.5:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	NP_620596.2:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
NM_139025.5:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC	NP_620594.1:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
NM_139026.6:c.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC	NP_620595.1:n.2768+3_2768+4insGCAGTACAAGCTGGCGGCCTGC
NM_139027.6:c.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC MANE Select	NP_620596.2:n.2861+3_2861+4insGCAGTACAAGCTGGCGGCCTGC
NR_024514.3:n.1698+3_1698+4insGCAGTACAAGCTGGCGGCCTGC