Canonical Allele Identifier: CA258266
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886430
MyVariant Identifiers: chrX:g.107816887_107816888insT (hg19) chrX:g.108573657_108573658insT (hg38)
PubMed: PMID:8940267
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108573657_108573658insT , CM000685.2:g.108573657_108573658insT GRCh38
NC_000023.10:g.107816887_107816888insT , CM000685.1:g.107816887_107816888insT GRCh37
NC_000023.9:g.107703543_107703544insT NCBI36
NG_011977.1:g.138734_138735insT
NG_011977.2:g.138734_138735insT

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.546+3_546+4insT MANE Select ENSP00000331902.7:n.546+3_546+4insT
ENST00000361603.7:c.546+3_546+4insT ENSP00000354505.2:n.546+3_546+4insT
ENST00000328300.10:c.546+3_546+4insT ENSP00000331902.6:n.546+3_546+4insT
ENST00000361603.6:c.546+3_546+4insT ENSP00000354505.2:n.546+3_546+4insT
NM_000495.4:c.546+3_546+4insT NP_000486.1:n.546+3_546+4insT
NM_033380.2:c.546+3_546+4insT NP_203699.1:n.546+3_546+4insT
XM_005262070.2:c.546+3_546+4insT XP_005262127.1:n.546+3_546+4insT
XM_005262072.3:c.546+3_546+4insT XP_005262129.1:n.546+3_546+4insT
XM_006724616.2:c.546+3_546+4insT XP_006724679.1:n.546+3_546+4insT
XM_011530849.1:c.222+3_222+4insT XP_011529151.1:n.222+3_222+4insT
XM_011530850.1:c.546+3_546+4insT XP_011529152.1:n.546+3_546+4insT
XM_011530849.2:c.561+3_561+4insT XP_011529151.2:n.561+3_561+4insT
XM_017029259.2:c.561+3_561+4insT XP_016884748.1:n.561+3_561+4insT
XM_017029260.1:c.561+3_561+4insT XP_016884749.1:n.561+3_561+4insT
XM_017029261.1:c.561+3_561+4insT XP_016884750.1:n.561+3_561+4insT
XM_017029262.2:c.561+3_561+4insT XP_016884751.1:n.561+3_561+4insT
NM_000495.5:c.546+3_546+4insT NP_000486.1:n.546+3_546+4insT
NM_033380.3:c.546+3_546+4insT MANE Select NP_203699.1:n.546+3_546+4insT
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