Canonical Allele Identifier: CA2697544685

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2688829
• ClinVar RCV Id: RCV003486046

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108621895_108621906del , CM000685.2:g.108621895_108621906del	GRCh38
NC_000023.10:g.107865125_107865136del , CM000685.1:g.107865125_107865136del	GRCh37
NC_000023.9:g.107751781_107751792del	NCBI36
NG_011977.1:g.186972_186983del
NG_011977.2:g.186972_186983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2767+3_2767+14del
ENST00000361603.7:c.2767+3_2767+14del
ENST00000328300.10:c.2767+3_2767+14del
ENST00000361603.6:c.2767+3_2767+14del
ENST00000483338.1:n.2223+3_2223+14del
NM_000495.4:c.2767+3_2767+14del
NM_033380.2:c.2767+3_2767+14del
XM_005262070.2:c.2767+3_2767+14del
XM_005262072.3:c.2767+3_2767+14del
XM_006724616.2:c.2767+3_2767+14del
XM_011530849.1:c.2443+3_2443+14del
XM_011530850.1:c.2767+3_2767+14del
XM_011530851.1:c.340+3_340+14del
XM_011530849.2:c.2782+3_2782+14del
XM_017029259.2:c.2782+3_2782+14del
XM_017029260.1:c.2782+3_2782+14del
XM_017029261.1:c.2782+3_2782+14del
XM_017029262.2:c.2782+3_2782+14del
XM_017029263.2:c.1102+3_1102+14del
NM_000495.5:c.2767+3_2767+14del
NM_033380.3:c.2767+3_2767+14del