Canonical Allele Identifier: CA2695235253

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695362dup , CM000685.2:g.108695362dup	GRCh38
NC_000023.10:g.107938592dup , CM000685.1:g.107938592dup	GRCh37
NC_000023.9:g.107825248dup	NCBI36
NG_011977.1:g.260439dup
NG_011977.2:g.260439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4917dup MANE Select	ENSP00000331902.7:p.Gly1640TrpfsTer6
ENST00000361603.7:c.4899dup	ENSP00000354505.2:p.Gly1634TrpfsTer6
ENST00000510690.2:n.1411dup
ENST00000644079.1:n.1748dup
ENST00000328300.10:c.4917dup	ENSP00000331902.6:p.Gly1640TrpfsTer6
ENST00000361603.6:c.4899dup	ENSP00000354505.2:p.Gly1634TrpfsTer6
ENST00000504541.1:c.219+441dup	ENSP00000424845.1:n.219+441dup
ENST00000515658.1:c.325-935dup
NM_000495.4:c.4899dup	NP_000486.1:p.Gly1634TrpfsTer6
NM_033380.2:c.4917dup	NP_203699.1:p.Gly1640TrpfsTer6
XM_005262070.2:c.4908dup	XP_005262127.1:p.Gly1637TrpfsTer6
XM_006724616.2:c.4917dup	XP_006724679.1:p.Gly1640TrpfsTer6
XM_011530849.1:c.4593dup	XP_011529151.1:p.Gly1532TrpfsTer6
XM_011530851.1:c.2490dup	XP_011529153.1:p.Gly831TrpfsTer6
XM_011530849.2:c.4932dup	XP_011529151.2:p.Gly1645TrpfsTer6
XM_017029259.2:c.4923dup	XP_016884748.1:p.Gly1642TrpfsTer6
XM_017029260.1:c.4914dup	XP_016884749.1:p.Gly1639TrpfsTer6
XM_017029263.2:c.3252dup	XP_016884752.1:p.Gly1085TrpfsTer6
NM_000495.5:c.4899dup	NP_000486.1:p.Gly1634TrpfsTer6
NM_033380.3:c.4917dup MANE Select	NP_203699.1:p.Gly1640TrpfsTer6