Canonical Allele Identifier: CA2695235661

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677546_108677562delinsAGAGAAGGA , CM000685.2:g.108677546_108677562delinsAGAGAAGGA	GRCh38
NC_000023.10:g.107920776_107920792delinsAGAGAAGGA , CM000685.1:g.107920776_107920792delinsAGAGAAGGA	GRCh37
NC_000023.9:g.107807432_107807448delinsAGAGAAGGA	NCBI36
NG_011977.1:g.242623_242639delinsAGAGAAGGA
NG_011977.2:g.242623_242639delinsAGAGAAGGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3855_3871delinsAGAGAAGGA MANE Select	ENSP00000331902.7:p.Ile1286GlufsTer28
ENST00000361603.7:c.3837_3853delinsAGAGAAGGA	ENSP00000354505.2:p.Ile1280GlufsTer28
ENST00000510690.2:n.349_365delinsAGAGAAGGA
ENST00000328300.10:c.3855_3871delinsAGAGAAGGA	ENSP00000331902.6:p.Ile1286GlufsTer28
ENST00000361603.6:c.3837_3853delinsAGAGAAGGA	ENSP00000354505.2:p.Ile1280GlufsTer28
ENST00000489230.1:n.258_274delinsAGAGAAGGA
ENST00000510690.1:n.349_365delinsAGAGAAGGA
NM_000495.4:c.3837_3853delinsAGAGAAGGA	NP_000486.1:p.Ile1280GlufsTer28
NM_033380.2:c.3855_3871delinsAGAGAAGGA	NP_203699.1:p.Ile1286GlufsTer28
XM_005262070.2:c.3846_3862delinsAGAGAAGGA	XP_005262127.1:p.Ile1283GlufsTer28
XM_006724616.2:c.3855_3871delinsAGAGAAGGA	XP_006724679.1:p.Ile1286GlufsTer28
XM_011530849.1:c.3531_3547delinsAGAGAAGGA	XP_011529151.1:p.Ile1178GlufsTer28
XM_011530851.1:c.1428_1444delinsAGAGAAGGA	XP_011529153.1:p.Ile477GlufsTer28
XM_011530849.2:c.3870_3886delinsAGAGAAGGA	XP_011529151.2:p.Ile1291GlufsTer28
XM_017029259.2:c.3861_3877delinsAGAGAAGGA	XP_016884748.1:p.Ile1288GlufsTer28
XM_017029260.1:c.3852_3868delinsAGAGAAGGA	XP_016884749.1:p.Ile1285GlufsTer28
XM_017029261.1:c.3870_3886delinsAGAGAAGGA	XP_016884750.1:p.Ile1291GlufsTer29
XM_017029263.2:c.2190_2206delinsAGAGAAGGA	XP_016884752.1:p.Ile731GlufsTer28
NM_000495.5:c.3837_3853delinsAGAGAAGGA	NP_000486.1:p.Ile1280GlufsTer28
NM_033380.3:c.3855_3871delinsAGAGAAGGA MANE Select	NP_203699.1:p.Ile1286GlufsTer28