Canonical Allele Identifier: CA2504118313

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157260_108157261insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG , CM000685.2:g.108157260_108157261insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG	GRCh38
NC_000023.10:g.107400490_107400491insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG , CM000685.1:g.107400490_107400491insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG	GRCh37
NC_000023.9:g.107287146_107287147insGCCAAGCGATACTCGGCACTCTGCGCGTGGGCCTCCAGCCCTTCGGCGCGTGCCAGCGTGGCTGCCACCTTCGCCAGGTGGTCGG	NCBI36
NG_012059.2:g.287215_287216insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4813_4814insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC MANE Select	ENSP00000334733.7:p.His1605ProfsTer?
ENST00000334504.11:c.4813_4814insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000334733.7:p.His1605ProfsTer?
ENST00000372216.8:c.4816_4817insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000361290.4:p.His1606ProfsTer?
ENST00000394872.6:c.4864_4865insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000378340.3:p.His1622ProfsTer?
ENST00000538570.5:c.4642_4643insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000445236.1:p.His1548ProfsTer?
ENST00000545689.2:c.4777_4778insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000443707.2:p.His1593ProfsTer?
ENST00000621266.4:c.4741_4742insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	ENSP00000482970.1:p.His1581ProfsTer?
NM_001287758.1:c.4864_4865insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274687.1:p.His1622ProfsTer?
NM_001287759.1:c.4741_4742insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274688.1:p.His1581ProfsTer?
NM_001287760.1:c.4642_4643insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274689.1:p.His1548ProfsTer?
NM_001847.3:c.4816_4817insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001838.2:p.His1606ProfsTer?
NM_033641.3:c.4813_4814insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_378667.1:p.His1605ProfsTer?
XM_006724617.2:c.4867_4868insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_006724680.1:p.His1623ProfsTer?
XM_011530852.1:c.4795_4796insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_011529154.1:p.His1599ProfsTer?
XM_011530853.1:c.4783_4784insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_011529155.1:p.His1595ProfsTer?
XM_006724617.3:c.4867_4868insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_006724680.1:p.His1623ProfsTer?
XM_011530852.2:c.4795_4796insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_011529154.1:p.His1599ProfsTer?
XM_011530853.3:c.4783_4784insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	XP_011529155.1:p.His1595ProfsTer?
NM_001847.4:c.4816_4817insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001838.2:p.His1606ProfsTer?
NM_033641.4:c.4813_4814insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC MANE Select	NP_378667.1:p.His1605ProfsTer?
NM_001287758.2:c.4864_4865insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274687.1:p.His1622ProfsTer?
NM_001287759.2:c.4741_4742insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274688.1:p.His1581ProfsTer?
NM_001287760.2:c.4642_4643insCGACCACCTGGCGAAGGTGGCAGCCACGCTGGCACGCGCCGAAGGGCTGGAGGCCCACGCGCAGAGTGCCGAGTATCGCTTGGCC	NP_001274689.1:p.His1548ProfsTer?