Canonical Allele Identifier: CA2450688422

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597598_108597599delinsGA , CM000685.2:g.108597598_108597599delinsGA	GRCh38
NC_000023.10:g.107840828_107840829delinsGA , CM000685.1:g.107840828_107840829delinsGA	GRCh37
NC_000023.9:g.107727484_107727485delinsGA	NCBI36
NG_011977.1:g.162675_162676delinsGA
NG_011977.2:g.162675_162676delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1779+30_1779+31delinsGA MANE Select	ENSP00000331902.7:n.1779+30_1779+31delinsGA
ENST00000361603.7:c.1779+30_1779+31delinsGA	ENSP00000354505.2:n.1779+30_1779+31delinsGA
ENST00000328300.10:c.1779+30_1779+31delinsGA	ENSP00000331902.6:n.1779+30_1779+31delinsGA
ENST00000361603.6:c.1779+30_1779+31delinsGA	ENSP00000354505.2:n.1779+30_1779+31delinsGA
ENST00000483338.1:n.1235+30_1235+31delinsGA
NM_000495.4:c.1779+30_1779+31delinsGA	NP_000486.1:n.1779+30_1779+31delinsGA
NM_033380.2:c.1779+30_1779+31delinsGA	NP_203699.1:n.1779+30_1779+31delinsGA
XM_005262070.2:c.1779+30_1779+31delinsGA	XP_005262127.1:n.1779+30_1779+31delinsGA
XM_005262072.3:c.1779+30_1779+31delinsGA	XP_005262129.1:n.1779+30_1779+31delinsGA
XM_006724616.2:c.1779+30_1779+31delinsGA	XP_006724679.1:n.1779+30_1779+31delinsGA
XM_011530849.1:c.1455+30_1455+31delinsGA	XP_011529151.1:n.1455+30_1455+31delinsGA
XM_011530850.1:c.1779+30_1779+31delinsGA	XP_011529152.1:n.1779+30_1779+31delinsGA
XM_011530849.2:c.1794+30_1794+31delinsGA	XP_011529151.2:n.1794+30_1794+31delinsGA
XM_017029259.2:c.1794+30_1794+31delinsGA	XP_016884748.1:n.1794+30_1794+31delinsGA
XM_017029260.1:c.1794+30_1794+31delinsGA	XP_016884749.1:n.1794+30_1794+31delinsGA
XM_017029261.1:c.1794+30_1794+31delinsGA	XP_016884750.1:n.1794+30_1794+31delinsGA
XM_017029262.2:c.1794+30_1794+31delinsGA	XP_016884751.1:n.1794+30_1794+31delinsGA
XM_017029263.2:c.114+30_114+31delinsGA	XP_016884752.1:n.114+30_114+31delinsGA
NM_000495.5:c.1779+30_1779+31delinsGA	NP_000486.1:n.1779+30_1779+31delinsGA
NM_033380.3:c.1779+30_1779+31delinsGA MANE Select	NP_203699.1:n.1779+30_1779+31delinsGA