Canonical Allele Identifier: CA258306

Gene: COL4A5

Linked Data

• dbSNP Id: rs104886438
• MyVariant Identifiers: chrX:g.107821309_107821310dupGG (hg19) ; chrX:g.108578079_108578080dupGG (hg38)
• PubMed: PMID:15954103

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108578079_108578080dup , CM000685.2:g.108578079_108578080dup	GRCh38
NC_000023.10:g.107821309_107821310dup , CM000685.1:g.107821309_107821310dup	GRCh37
NC_000023.9:g.107707965_107707966dup	NCBI36
NG_011977.1:g.143156_143157dup
NG_011977.2:g.143156_143157dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.647_648dup
ENST00000361603.7:c.647_648dup
ENST00000328300.10:c.647_648dup
ENST00000361603.6:c.647_648dup
NM_000495.4:c.647_648dup
NM_033380.2:c.647_648dup
XM_005262070.2:c.647_648dup
XM_005262072.3:c.647_648dup
XM_006724616.2:c.647_648dup
XM_011530849.1:c.323_324dup
XM_011530850.1:c.647_648dup
XM_011530849.2:c.662_663dup
XM_017029259.2:c.662_663dup
XM_017029260.1:c.662_663dup
XM_017029261.1:c.662_663dup
XM_017029262.2:c.662_663dup
NM_000495.5:c.647_648dup
NM_033380.3:c.647_648dup