Canonical Allele Identifier: CA2822887520
Gene: COL4A6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108156990_108156991insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT , CM000685.2:g.108156990_108156991insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT GRCh38
NC_000023.10:g.107400220_107400221insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT , CM000685.1:g.107400220_107400221insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT GRCh37
NC_000023.9:g.107286876_107286877insTAACTCTCCACGCTATCCCCCTGCTTACTTATGCTGCT NCBI36
NG_012059.2:g.287484_287485insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000334504.12:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA MANE Select ENSP00000334733.7:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000334504.11:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000334733.7:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000372216.8:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000361290.4:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000394872.6:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000378340.3:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000538570.5:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000445236.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000545689.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000443707.2:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
ENST00000621266.4:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA ENSP00000482970.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGA...
NM_001287758.1:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274687.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001287759.1:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274688.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001287760.1:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274689.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001847.3:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001838.2:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA...
NM_033641.3:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_378667.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA...
XM_006724617.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_006724680.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
XM_011530852.1:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_011529154.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
XM_011530853.1:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_011529155.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
XM_006724617.3:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_006724680.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
XM_011530852.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_011529154.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
XM_011530853.3:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA XP_011529155.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001847.4:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001838.2:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA...
NM_033641.4:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA MANE Select NP_378667.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA...
NM_001287758.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274687.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001287759.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274688.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...
NM_001287760.2:c.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAGTTA NP_001274689.1:n.*9_*10insAGCAGCATAAGTAAGCAGGGGGATAGCGTGGAGAG...