Canonical Allele Identifier: CA2695235664

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677570_108677571insC , CM000685.2:g.108677570_108677571insC	GRCh38
NC_000023.10:g.107920800_107920801insC , CM000685.1:g.107920800_107920801insC	GRCh37
NC_000023.9:g.107807456_107807457insC	NCBI36
NG_011977.1:g.242647_242648insC
NG_011977.2:g.242647_242648insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3879_3880insC MANE Select	ENSP00000331902.7:p.Gly1294ArgfsTer23
ENST00000361603.7:c.3861_3862insC	ENSP00000354505.2:p.Gly1288ArgfsTer23
ENST00000510690.2:n.373_374insC
ENST00000328300.10:c.3879_3880insC	ENSP00000331902.6:p.Gly1294ArgfsTer23
ENST00000361603.6:c.3861_3862insC	ENSP00000354505.2:p.Gly1288ArgfsTer23
ENST00000489230.1:n.282_283insC
ENST00000510690.1:n.373_374insC
NM_000495.4:c.3861_3862insC	NP_000486.1:p.Gly1288ArgfsTer23
NM_033380.2:c.3879_3880insC	NP_203699.1:p.Gly1294ArgfsTer23
XM_005262070.2:c.3870_3871insC	XP_005262127.1:p.Gly1291ArgfsTer23
XM_006724616.2:c.3879_3880insC	XP_006724679.1:p.Gly1294ArgfsTer23
XM_011530849.1:c.3555_3556insC	XP_011529151.1:p.Gly1186ArgfsTer23
XM_011530851.1:c.1452_1453insC	XP_011529153.1:p.Gly485ArgfsTer23
XM_011530849.2:c.3894_3895insC	XP_011529151.2:p.Gly1299ArgfsTer23
XM_017029259.2:c.3885_3886insC	XP_016884748.1:p.Gly1296ArgfsTer23
XM_017029260.1:c.3876_3877insC	XP_016884749.1:p.Gly1293ArgfsTer23
XM_017029261.1:c.3894_3895insC	XP_016884750.1:p.Gly1299ArgfsTer24
XM_017029263.2:c.2214_2215insC	XP_016884752.1:p.Gly739ArgfsTer23
NM_000495.5:c.3861_3862insC	NP_000486.1:p.Gly1288ArgfsTer23
NM_033380.3:c.3879_3880insC MANE Select	NP_203699.1:p.Gly1294ArgfsTer23