Canonical Allele Identifier: CA334055348
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886404
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108681833_108681834insTCCT , CM000685.2:g.108681833_108681834insTCCT GRCh38
NC_000023.10:g.107925063_107925064insTCCT , CM000685.1:g.107925063_107925064insTCCT GRCh37
NC_000023.9:g.107811719_107811720insTCCT NCBI36
NG_011977.1:g.246910_246911insTCCT
NG_011977.2:g.246910_246911insTCCT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.4161_4162insTCCT MANE Select ENSP00000331902.7:p.Gly1388SerfsTer?
ENST00000361603.7:c.4143_4144insTCCT ENSP00000354505.2:p.Gly1382SerfsTer?
ENST00000510690.2:n.655_656insTCCT
ENST00000328300.10:c.4161_4162insTCCT ENSP00000331902.6:p.Gly1388SerfsTer?
ENST00000361603.6:c.4143_4144insTCCT ENSP00000354505.2:p.Gly1382SerfsTer?
ENST00000489230.1:n.564_565insTCCT
NM_000495.4:c.4143_4144insTCCT NP_000486.1:p.Gly1382SerfsTer?
NM_033380.2:c.4161_4162insTCCT NP_203699.1:p.Gly1388SerfsTer?
XM_005262070.2:c.4152_4153insTCCT XP_005262127.1:p.Gly1385SerfsTer?
XM_006724616.2:c.4161_4162insTCCT XP_006724679.1:p.Gly1388SerfsTer?
XM_011530849.1:c.3837_3838insTCCT XP_011529151.1:p.Gly1280SerfsTer?
XM_011530851.1:c.1734_1735insTCCT XP_011529153.1:p.Gly579SerfsTer?
XM_011530849.2:c.4176_4177insTCCT XP_011529151.2:p.Gly1393SerfsTer?
XM_017029259.2:c.4167_4168insTCCT XP_016884748.1:p.Gly1390SerfsTer?
XM_017029260.1:c.4158_4159insTCCT XP_016884749.1:p.Gly1387SerfsTer?
XM_017029263.2:c.2496_2497insTCCT XP_016884752.1:p.Gly833SerfsTer?
NM_000495.5:c.4143_4144insTCCT NP_000486.1:p.Gly1382SerfsTer?
NM_033380.3:c.4161_4162insTCCT MANE Select NP_203699.1:p.Gly1388SerfsTer?
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