Canonical Allele Identifier: CA258538

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107840758_107842198del (hg19) ; chrX:g.108597528_108598968del (hg38)
• PubMed: PMID:10094548

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597528_108598968del , CM000685.2:g.108597528_108598968del	GRCh38
NC_000023.10:g.107840758_107842198del , CM000685.1:g.107840758_107842198del	GRCh37
NC_000023.9:g.107727414_107728854del	NCBI36
NG_011977.1:g.162605_164045del
NG_011977.2:g.162605_164045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1739_1948+98del
ENST00000361603.7:c.1739_1948+98del
ENST00000328300.10:c.1739_1948+98del
ENST00000361603.6:c.1739_1948+98del
ENST00000483338.1:n.1195_1404+98del
NM_000495.4:c.1739_1948+98del
NM_033380.2:c.1739_1948+98del
XM_005262070.2:c.1739_1948+98del
XM_005262072.3:c.1739_1948+98del
XM_006724616.2:c.1739_1948+98del
XM_011530849.1:c.1415_1624+98del
XM_011530850.1:c.1739_1948+98del
XM_011530849.2:c.1754_1963+98del
XM_017029259.2:c.1754_1963+98del
XM_017029260.1:c.1754_1963+98del
XM_017029261.1:c.1754_1963+98del
XM_017029262.2:c.1754_1963+98del
XM_017029263.2:c.74_283+98del
NM_000495.5:c.1739_1948+98del
NM_033380.3:c.1739_1948+98del