Canonical Allele Identifier: CA2450541971

Gene: COL4A6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108157153_108157157delinsGCCTC , CM000685.2:g.108157153_108157157delinsGCCTC	GRCh38
NC_000023.10:g.107400383_107400387delinsGCCTC , CM000685.1:g.107400383_107400387delinsGCCTC	GRCh37
NC_000023.9:g.107287039_107287043delinsGCCTC	NCBI36
NG_012059.2:g.287318_287322delinsGAGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334504.12:c.4916_4920delinsGAGGC MANE Select	ENSP00000334733.7:p.Arg1639=
ENST00000334504.11:c.4916_4920delinsGAGGC	ENSP00000334733.7:p.Arg1639=
ENST00000372216.8:c.4919_4923delinsGAGGC	ENSP00000361290.4:p.Arg1640=
ENST00000394872.6:c.4967_4971delinsGAGGC	ENSP00000378340.3:p.Arg1656=
ENST00000538570.5:c.4745_4749delinsGAGGC	ENSP00000445236.1:p.Arg1582=
ENST00000545689.2:c.4880_4884delinsGAGGC	ENSP00000443707.2:p.Arg1627=
ENST00000621266.4:c.4844_4848delinsGAGGC	ENSP00000482970.1:p.Arg1615=
NM_001287758.1:c.4967_4971delinsGAGGC	NP_001274687.1:p.Arg1656=
NM_001287759.1:c.4844_4848delinsGAGGC	NP_001274688.1:p.Arg1615=
NM_001287760.1:c.4745_4749delinsGAGGC	NP_001274689.1:p.Arg1582=
NM_001847.3:c.4919_4923delinsGAGGC	NP_001838.2:p.Arg1640=
NM_033641.3:c.4916_4920delinsGAGGC	NP_378667.1:p.Arg1639=
XM_006724617.2:c.4970_4974delinsGAGGC	XP_006724680.1:p.Arg1657=
XM_011530852.1:c.4898_4902delinsGAGGC	XP_011529154.1:p.Arg1633=
XM_011530853.1:c.4886_4890delinsGAGGC	XP_011529155.1:p.Arg1629=
XM_006724617.3:c.4970_4974delinsGAGGC	XP_006724680.1:p.Arg1657=
XM_011530852.2:c.4898_4902delinsGAGGC	XP_011529154.1:p.Arg1633=
XM_011530853.3:c.4886_4890delinsGAGGC	XP_011529155.1:p.Arg1629=
NM_001847.4:c.4919_4923delinsGAGGC	NP_001838.2:p.Arg1640=
NM_033641.4:c.4916_4920delinsGAGGC MANE Select	NP_378667.1:p.Arg1639=
NM_001287758.2:c.4967_4971delinsGAGGC	NP_001274687.1:p.Arg1656=
NM_001287759.2:c.4844_4848delinsGAGGC	NP_001274688.1:p.Arg1615=
NM_001287760.2:c.4745_4749delinsGAGGC	NP_001274689.1:p.Arg1582=