Canonical Allele Identifier: CA2695235671

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108680930_108680939delinsAGGA , CM000685.2:g.108680930_108680939delinsAGGA	GRCh38
NC_000023.10:g.107924160_107924169delinsAGGA , CM000685.1:g.107924160_107924169delinsAGGA	GRCh37
NC_000023.9:g.107810816_107810825delinsAGGA	NCBI36
NG_011977.1:g.246007_246016delinsAGGA
NG_011977.2:g.246007_246016delinsAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4061_4070delinsAGGA MANE Select	ENSP00000331902.7:p.Gly1354_Gly1357delinsGluGlu
ENST00000361603.7:c.4043_4052delinsAGGA	ENSP00000354505.2:p.Gly1348_Gly1351delinsGluGlu
ENST00000510690.2:n.555_564delinsAGGA
ENST00000328300.10:c.4061_4070delinsAGGA	ENSP00000331902.6:p.Gly1354_Gly1357delinsGluGlu
ENST00000361603.6:c.4043_4052delinsAGGA	ENSP00000354505.2:p.Gly1348_Gly1351delinsGluGlu
ENST00000489230.1:n.464_473delinsAGGA
NM_000495.4:c.4043_4052delinsAGGA	NP_000486.1:p.Gly1348_Gly1351delinsGluGlu
NM_033380.2:c.4061_4070delinsAGGA	NP_203699.1:p.Gly1354_Gly1357delinsGluGlu
XM_005262070.2:c.4052_4061delinsAGGA	XP_005262127.1:p.Gly1351_Gly1354delinsGluGlu
XM_006724616.2:c.4061_4070delinsAGGA	XP_006724679.1:p.Gly1354_Gly1357delinsGluGlu
XM_011530849.1:c.3737_3746delinsAGGA	XP_011529151.1:p.Gly1246_Gly1249delinsGluGlu
XM_011530851.1:c.1634_1643delinsAGGA	XP_011529153.1:p.Gly545_Gly548delinsGluGlu
XM_011530849.2:c.4076_4085delinsAGGA	XP_011529151.2:p.Gly1359_Gly1362delinsGluGlu
XM_017029259.2:c.4067_4076delinsAGGA	XP_016884748.1:p.Gly1356_Gly1359delinsGluGlu
XM_017029260.1:c.4058_4067delinsAGGA	XP_016884749.1:p.Gly1353_Gly1356delinsGluGlu
XM_017029263.2:c.2396_2405delinsAGGA	XP_016884752.1:p.Gly799_Gly802delinsGluGlu
NM_000495.5:c.4043_4052delinsAGGA	NP_000486.1:p.Gly1348_Gly1351delinsGluGlu
NM_033380.3:c.4061_4070delinsAGGA MANE Select	NP_203699.1:p.Gly1354_Gly1357delinsGluGlu