Canonical Allele Identifier: CA258920
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886391
MyVariant Identifiers: chrX:g.107911601_107911672del (hg19) chrX:g.108668371_108668442del (hg38)
PubMed: PMID:11462238
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108668371_108668442del , CM000685.2:g.108668371_108668442del GRCh38
NC_000023.10:g.107911601_107911672del , CM000685.1:g.107911601_107911672del GRCh37
NC_000023.9:g.107798257_107798328del NCBI36
NG_011977.1:g.233448_233519del
NG_011977.2:g.233448_233519del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3657_3728del MANE Select ENSP00000331902.7:p.Gly1220_Pro1243del
ENST00000361603.7:c.3657_3728del ENSP00000354505.2:p.Gly1220_Pro1243del
ENST00000328300.10:c.3657_3728del ENSP00000331902.6:p.Gly1220_Pro1243del
ENST00000361603.6:c.3657_3728del ENSP00000354505.2:p.Gly1220_Pro1243del
NM_000495.4:c.3657_3728del NP_000486.1:p.Gly1220_Pro1243del
NM_033380.2:c.3657_3728del NP_203699.1:p.Gly1220_Pro1243del
XM_005262070.2:c.3657_3728del XP_005262127.1:p.Gly1220_Pro1243del
XM_006724616.2:c.3657_3728del XP_006724679.1:p.Gly1220_Pro1243del
XM_011530849.1:c.3333_3404del XP_011529151.1:p.Gly1112_Pro1135del
XM_011530850.1:c.3657_3728del XP_011529152.1:p.Gly1220_Pro1243del
XM_011530851.1:c.1230_1301del XP_011529153.1:p.Gly411_Pro434del
XM_011530849.2:c.3672_3743del XP_011529151.2:p.Gly1225_Pro1248del
XM_017029259.2:c.3672_3743del XP_016884748.1:p.Gly1225_Pro1248del
XM_017029260.1:c.3672_3743del XP_016884749.1:p.Gly1225_Pro1248del
XM_017029261.1:c.3672_3743del XP_016884750.1:p.Gly1225_Pro1248del
XM_017029262.2:c.3672_3743del XP_016884751.1:p.Gly1225_Pro1248del
XM_017029263.2:c.1992_2063del XP_016884752.1:p.Gly665_Pro688del
NM_000495.5:c.3657_3728del NP_000486.1:p.Gly1220_Pro1243del
NM_033380.3:c.3657_3728del MANE Select NP_203699.1:p.Gly1220_Pro1243del
Search 100 bp 5'
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