Canonical Allele Identifier: CA2450717249

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681863_108681864delinsAC , CM000685.2:g.108681863_108681864delinsAC	GRCh38
NC_000023.10:g.107925093_107925094delinsAC , CM000685.1:g.107925093_107925094delinsAC	GRCh37
NC_000023.9:g.107811749_107811750delinsAC	NCBI36
NG_011977.1:g.246940_246941delinsAC
NG_011977.2:g.246940_246941delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4191_4192delinsAC MANE Select	ENSP00000331902.7:p.Gly1397=
ENST00000361603.7:c.4173_4174delinsAC	ENSP00000354505.2:p.Gly1391=
ENST00000510690.2:n.685_686delinsAC
ENST00000328300.10:c.4191_4192delinsAC	ENSP00000331902.6:p.Gly1397=
ENST00000361603.6:c.4173_4174delinsAC	ENSP00000354505.2:p.Gly1391=
ENST00000489230.1:n.594_595delinsAC
NM_000495.4:c.4173_4174delinsAC	NP_000486.1:p.Gly1391=
NM_033380.2:c.4191_4192delinsAC	NP_203699.1:p.Gly1397=
XM_005262070.2:c.4182_4183delinsAC	XP_005262127.1:p.Gly1394=
XM_006724616.2:c.4191_4192delinsAC	XP_006724679.1:p.Gly1397=
XM_011530849.1:c.3867_3868delinsAC	XP_011529151.1:p.Gly1289=
XM_011530851.1:c.1764_1765delinsAC	XP_011529153.1:p.Gly588=
XM_011530849.2:c.4206_4207delinsAC	XP_011529151.2:p.Gly1402=
XM_017029259.2:c.4197_4198delinsAC	XP_016884748.1:p.Gly1399=
XM_017029260.1:c.4188_4189delinsAC	XP_016884749.1:p.Gly1396=
XM_017029263.2:c.2526_2527delinsAC	XP_016884752.1:p.Gly842=
NM_000495.5:c.4173_4174delinsAC	NP_000486.1:p.Gly1391=
NM_033380.3:c.4191_4192delinsAC MANE Select	NP_203699.1:p.Gly1397=