Canonical Allele Identifier: CA2450688854

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108598819_108598820delinsGA , CM000685.2:g.108598819_108598820delinsGA	GRCh38
NC_000023.10:g.107842049_107842050delinsGA , CM000685.1:g.107842049_107842050delinsGA	GRCh37
NC_000023.9:g.107728705_107728706delinsGA	NCBI36
NG_011977.1:g.163896_163897delinsGA
NG_011977.2:g.163896_163897delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1897_1898delinsGA MANE Select	ENSP00000331902.7:p.Glu633=
ENST00000361603.7:c.1897_1898delinsGA	ENSP00000354505.2:p.Glu633=
ENST00000328300.10:c.1897_1898delinsGA	ENSP00000331902.6:p.Glu633=
ENST00000361603.6:c.1897_1898delinsGA	ENSP00000354505.2:p.Glu633=
ENST00000483338.1:n.1353_1354delinsGA
NM_000495.4:c.1897_1898delinsGA	NP_000486.1:p.Glu633=
NM_033380.2:c.1897_1898delinsGA	NP_203699.1:p.Glu633=
XM_005262070.2:c.1897_1898delinsGA	XP_005262127.1:p.Glu633=
XM_005262072.3:c.1897_1898delinsGA	XP_005262129.1:p.Glu633=
XM_006724616.2:c.1897_1898delinsGA	XP_006724679.1:p.Glu633=
XM_011530849.1:c.1573_1574delinsGA	XP_011529151.1:p.Glu525=
XM_011530850.1:c.1897_1898delinsGA	XP_011529152.1:p.Glu633=
XM_011530849.2:c.1912_1913delinsGA	XP_011529151.2:p.Glu638=
XM_017029259.2:c.1912_1913delinsGA	XP_016884748.1:p.Glu638=
XM_017029260.1:c.1912_1913delinsGA	XP_016884749.1:p.Glu638=
XM_017029261.1:c.1912_1913delinsGA	XP_016884750.1:p.Glu638=
XM_017029262.2:c.1912_1913delinsGA	XP_016884751.1:p.Glu638=
XM_017029263.2:c.232_233delinsGA	XP_016884752.1:p.Glu78=
NM_000495.5:c.1897_1898delinsGA	NP_000486.1:p.Glu633=
NM_033380.3:c.1897_1898delinsGA MANE Select	NP_203699.1:p.Glu633=