Canonical Allele Identifier: CA261105

Gene: COL4A5

Linked Data

• dbSNP Id: rs281874749
• MyVariant Identifiers: chrX:g.107938128_107938129del (hg19) ; chrX:g.108694898_108694899del (hg38)
• PubMed: PMID:21505094

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694898_108694899del , CM000685.2:g.108694898_108694899del	GRCh38
NC_000023.10:g.107938128_107938129del , CM000685.1:g.107938128_107938129del	GRCh37
NC_000023.9:g.107824784_107824785del	NCBI36
NG_011977.1:g.259975_259976del
NG_011977.2:g.259975_259976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4798_4799del MANE Select	ENSP00000331902.7:p.Trp1600AspfsTer?
ENST00000361603.7:c.4780_4781del	ENSP00000354505.2:p.Trp1594AspfsTer?
ENST00000510690.2:n.1292_1293del
ENST00000644079.1:n.1284_1285del
ENST00000328300.10:c.4798_4799del	ENSP00000331902.6:p.Trp1600AspfsTer?
ENST00000361603.6:c.4780_4781del	ENSP00000354505.2:p.Trp1594AspfsTer?
ENST00000504541.1:c.196_197del	ENSP00000424845.1:p.Trp66AspfsTer15
ENST00000515658.1:c.325-1399_325-1398del
NM_000495.4:c.4780_4781del	NP_000486.1:p.Trp1594AspfsTer?
NM_033380.2:c.4798_4799del	NP_203699.1:p.Trp1600AspfsTer?
XM_005262070.2:c.4789_4790del	XP_005262127.1:p.Trp1597AspfsTer?
XM_006724616.2:c.4798_4799del	XP_006724679.1:p.Trp1600AspfsTer?
XM_011530849.1:c.4474_4475del	XP_011529151.1:p.Trp1492AspfsTer?
XM_011530851.1:c.2371_2372del	XP_011529153.1:p.Trp791AspfsTer?
XM_011530849.2:c.4813_4814del	XP_011529151.2:p.Trp1605AspfsTer?
XM_017029259.2:c.4804_4805del	XP_016884748.1:p.Trp1602AspfsTer?
XM_017029260.1:c.4795_4796del	XP_016884749.1:p.Trp1599AspfsTer?
XM_017029263.2:c.3133_3134del	XP_016884752.1:p.Trp1045AspfsTer?
NM_000495.5:c.4780_4781del	NP_000486.1:p.Trp1594AspfsTer?
NM_033380.3:c.4798_4799del MANE Select	NP_203699.1:p.Trp1600AspfsTer?