Canonical Allele Identifier: CA259142
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886426
MyVariant Identifiers: chrX:g.107939544_107939551del (hg19) chrX:g.108696314_108696321del (hg38)
PubMed: PMID:10094548
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108696314_108696321del , CM000685.2:g.108696314_108696321del GRCh38
NC_000023.10:g.107939544_107939551del , CM000685.1:g.107939544_107939551del GRCh37
NC_000023.9:g.107826200_107826207del NCBI36
NG_011977.1:g.261391_261398del
NG_011977.2:g.261391_261398del

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.5012_5019del MANE Select ENSP00000331902.7:p.Thr1671SerfsTer9
ENST00000361603.7:c.4994_5001del ENSP00000354505.2:p.Thr1665SerfsTer9
ENST00000510690.2:n.1506_1513del
ENST00000644079.1:n.2700_2707del
ENST00000328300.10:c.5012_5019del ENSP00000331902.6:p.Thr1671SerfsTer9
ENST00000361603.6:c.4994_5001del ENSP00000354505.2:p.Thr1665SerfsTer9
ENST00000504541.1:c.237_244del ENSP00000424845.1:n.237_244del
ENST00000515658.1:c.342_349del
NM_000495.4:c.4994_5001del NP_000486.1:p.Thr1665SerfsTer9
NM_033380.2:c.5012_5019del NP_203699.1:p.Thr1671SerfsTer9
XM_005262070.2:c.5003_5010del XP_005262127.1:p.Thr1668SerfsTer9
XM_006724616.2:c.5012_5019del XP_006724679.1:p.Thr1671SerfsTer9
XM_011530849.1:c.4688_4695del XP_011529151.1:p.Thr1563SerfsTer9
XM_011530851.1:c.2585_2592del XP_011529153.1:p.Thr862SerfsTer9
XM_011530849.2:c.5027_5034del XP_011529151.2:p.Thr1676SerfsTer9
XM_017029259.2:c.5018_5025del XP_016884748.1:p.Thr1673SerfsTer9
XM_017029260.1:c.5009_5016del XP_016884749.1:p.Thr1670SerfsTer9
XM_017029263.2:c.3347_3354del XP_016884752.1:p.Thr1116SerfsTer9
NM_000495.5:c.4994_5001del NP_000486.1:p.Thr1665SerfsTer9
NM_033380.3:c.5012_5019del MANE Select NP_203699.1:p.Thr1671SerfsTer9
Search 100 bp 5'
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