Canonical Allele Identifier: CA258941
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886392

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108668423_108668424dup , CM000685.2:g.108668423_108668424dup GRCh38
NC_000023.10:g.107911653_107911654dup , CM000685.1:g.107911653_107911654dup GRCh37
NC_000023.9:g.107798309_107798310dup NCBI36
NG_011977.1:g.233500_233501dup
NG_011977.2:g.233500_233501dup

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3709_3710dup MANE Select ENSP00000331902.7:p.Gly1238GlnfsTer?
ENST00000361603.7:c.3709_3710dup ENSP00000354505.2:p.Gly1238GlnfsTer?
ENST00000328300.10:c.3709_3710dup ENSP00000331902.6:p.Gly1238GlnfsTer?
ENST00000361603.6:c.3709_3710dup ENSP00000354505.2:p.Gly1238GlnfsTer?
NM_000495.4:c.3709_3710dup NP_000486.1:p.Gly1238GlnfsTer?
NM_033380.2:c.3709_3710dup NP_203699.1:p.Gly1238GlnfsTer?
XM_005262070.2:c.3709_3710dup XP_005262127.1:p.Gly1238GlnfsTer?
XM_006724616.2:c.3709_3710dup XP_006724679.1:p.Gly1238GlnfsTer?
XM_011530849.1:c.3385_3386dup XP_011529151.1:p.Gly1130GlnfsTer?
XM_011530850.1:c.3709_3710dup XP_011529152.1:p.Gly1238GlnfsTer?
XM_011530851.1:c.1282_1283dup XP_011529153.1:p.Gly429GlnfsTer?
XM_011530849.2:c.3724_3725dup XP_011529151.2:p.Gly1243GlnfsTer?
XM_017029259.2:c.3724_3725dup XP_016884748.1:p.Gly1243GlnfsTer?
XM_017029260.1:c.3724_3725dup XP_016884749.1:p.Gly1243GlnfsTer?
XM_017029261.1:c.3724_3725dup XP_016884750.1:p.Gly1243GlnfsTer?
XM_017029262.2:c.3724_3725dup XP_016884751.1:p.Gly1243GlnfsTer?
XM_017029263.2:c.2044_2045dup XP_016884752.1:p.Gly683GlnfsTer?
NM_000495.5:c.3709_3710dup NP_000486.1:p.Gly1238GlnfsTer?
NM_033380.3:c.3709_3710dup MANE Select NP_203699.1:p.Gly1238GlnfsTer?