Canonical Allele Identifier: CA2695235662

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677562_108677563insA , CM000685.2:g.108677562_108677563insA	GRCh38
NC_000023.10:g.107920792_107920793insA , CM000685.1:g.107920792_107920793insA	GRCh37
NC_000023.9:g.107807448_107807449insA	NCBI36
NG_011977.1:g.242639_242640insA
NG_011977.2:g.242639_242640insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3871_3872insA MANE Select	ENSP00000331902.7:p.Gly1291GlufsTer26
ENST00000361603.7:c.3853_3854insA	ENSP00000354505.2:p.Gly1285GlufsTer26
ENST00000510690.2:n.365_366insA
ENST00000328300.10:c.3871_3872insA	ENSP00000331902.6:p.Gly1291GlufsTer26
ENST00000361603.6:c.3853_3854insA	ENSP00000354505.2:p.Gly1285GlufsTer26
ENST00000489230.1:n.274_275insA
ENST00000510690.1:n.365_366insA
NM_000495.4:c.3853_3854insA	NP_000486.1:p.Gly1285GlufsTer26
NM_033380.2:c.3871_3872insA	NP_203699.1:p.Gly1291GlufsTer26
XM_005262070.2:c.3862_3863insA	XP_005262127.1:p.Gly1288GlufsTer26
XM_006724616.2:c.3871_3872insA	XP_006724679.1:p.Gly1291GlufsTer26
XM_011530849.1:c.3547_3548insA	XP_011529151.1:p.Gly1183GlufsTer26
XM_011530851.1:c.1444_1445insA	XP_011529153.1:p.Gly482GlufsTer26
XM_011530849.2:c.3886_3887insA	XP_011529151.2:p.Gly1296GlufsTer26
XM_017029259.2:c.3877_3878insA	XP_016884748.1:p.Gly1293GlufsTer26
XM_017029260.1:c.3868_3869insA	XP_016884749.1:p.Gly1290GlufsTer26
XM_017029261.1:c.3886_3887insA	XP_016884750.1:p.Gly1296GlufsTer27
XM_017029263.2:c.2206_2207insA	XP_016884752.1:p.Gly736GlufsTer26
NM_000495.5:c.3853_3854insA	NP_000486.1:p.Gly1285GlufsTer26
NM_033380.3:c.3871_3872insA MANE Select	NP_203699.1:p.Gly1291GlufsTer26