Canonical Allele Identifier: CA2450719178

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687619_108687621delinsGGA , CM000685.2:g.108687619_108687621delinsGGA	GRCh38
NC_000023.10:g.107930849_107930851delinsGGA , CM000685.1:g.107930849_107930851delinsGGA	GRCh37
NC_000023.9:g.107817505_107817507delinsGGA	NCBI36
NG_011977.1:g.252696_252698delinsGGA
NG_011977.2:g.252696_252698delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4453_4455delinsGGA MANE Select	ENSP00000331902.7:p.Gly1485=
ENST00000361603.7:c.4435_4437delinsGGA	ENSP00000354505.2:p.Gly1479=
ENST00000510690.2:n.947_949delinsGGA
ENST00000328300.10:c.4453_4455delinsGGA	ENSP00000331902.6:p.Gly1485=
ENST00000361603.6:c.4435_4437delinsGGA	ENSP00000354505.2:p.Gly1479=
ENST00000515658.1:c.249_251delinsGGA
NM_000495.4:c.4435_4437delinsGGA	NP_000486.1:p.Gly1479=
NM_033380.2:c.4453_4455delinsGGA	NP_203699.1:p.Gly1485=
XM_005262070.2:c.4444_4446delinsGGA	XP_005262127.1:p.Gly1482=
XM_006724616.2:c.4453_4455delinsGGA	XP_006724679.1:p.Gly1485=
XM_011530849.1:c.4129_4131delinsGGA	XP_011529151.1:p.Gly1377=
XM_011530851.1:c.2026_2028delinsGGA	XP_011529153.1:p.Gly676=
XM_011530849.2:c.4468_4470delinsGGA	XP_011529151.2:p.Gly1490=
XM_017029259.2:c.4459_4461delinsGGA	XP_016884748.1:p.Gly1487=
XM_017029260.1:c.4450_4452delinsGGA	XP_016884749.1:p.Gly1484=
XM_017029263.2:c.2788_2790delinsGGA	XP_016884752.1:p.Gly930=
NM_000495.5:c.4435_4437delinsGGA	NP_000486.1:p.Gly1479=
NM_033380.3:c.4453_4455delinsGGA MANE Select	NP_203699.1:p.Gly1485=