Canonical Allele Identifier: CA2739274847
Gene: VCAN HGNC NCBI
VCAN-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2810205
ClinVar RCV Id: RCV003680337

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.83555021del , CM000667.2:g.83555021del GRCh38
NC_000005.9:g.82850840del , CM000667.1:g.82850840del GRCh37
NC_000005.8:g.82886596del NCBI36
NG_012682.1:g.88311del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265077.8:c.9718del (VCAN) MANE Select ENSP00000265077.3:p.Thr3240LeufsTer28
ENST00000265077.7:c.9718del (VCAN) ENSP00000265077.3:p.Thr3240LeufsTer28
ENST00000342785.8:c.4456del (VCAN) ENSP00000342768.4:p.Thr1486LeufsTer28
ENST00000343200.9:c.6757del (VCAN) ENSP00000340062.5:p.Thr2253LeufsTer28
ENST00000502527.2:c.1495del (VCAN) ENSP00000421362.2:p.Thr499LeufsTer28
ENST00000505615.1:n.227del (VCAN)
ENST00000512590.6:c.4312del (VCAN) ENSP00000425959.2:p.Thr1438LeufsTer28
ENST00000513016.5:n.7108del (VCAN)
NM_001126336.2:c.1495del (VCAN) NP_001119808.1:p.Thr499LeufsTer28
NM_001164097.1:c.6757del (VCAN) NP_001157569.1:p.Thr2253LeufsTer28
NM_001164098.1:c.4456del (VCAN) NP_001157570.1:p.Thr1486LeufsTer28
NM_004385.4:c.9718del (VCAN) NP_004376.2:p.Thr3240LeufsTer28
XM_011543776.1:c.160+6510del (VCAN-AS1) XP_011542078.1:n.160+6510del
XM_011543777.1:c.160+6510del (VCAN-AS1) XP_011542079.1:n.160+6510del
XM_011543778.1:c.160+6510del (VCAN-AS1) XP_011542080.1:n.160+6510del
XM_011543779.1:c.160+6510del (VCAN-AS1) XP_011542081.1:n.160+6510del
XM_011543780.1:c.12+179del (VCAN-AS1) XP_011542082.1:n.12+179del
XM_011543781.1:c.160+6510del (VCAN-AS1) XP_011542083.1:n.160+6510del
XM_011543782.1:c.160+6510del (VCAN-AS1) XP_011542084.1:n.160+6510del
XR_948512.1:n.470+6510del (VCAN-AS1)
XR_948513.1:n.470+6510del (VCAN-AS1)
XR_948514.1:n.470+6510del (VCAN-AS1)
XR_948515.1:n.470+6510del (VCAN-AS1)
XR_948516.1:n.470+6510del (VCAN-AS1)
NR_136215.1:n.284+7010del (VCAN-AS1)
NM_004385.5:c.9718del (VCAN) MANE Select NP_004376.2:p.Thr3240LeufsTer28
NM_001126336.3:c.1495del (VCAN) NP_001119808.1:p.Thr499LeufsTer28
NM_001164097.2:c.6757del (VCAN) NP_001157569.1:p.Thr2253LeufsTer28
NM_001164098.2:c.4456del (VCAN) NP_001157570.1:p.Thr1486LeufsTer28