Canonical Allele Identifier: CA643637395

Gene: COL4A5

Linked Data

• dbSNP Id: rs1262210475
• gnomAD v2: X-107939657-TAA-T
• gnomAD v4: X-108696427-TAA-T
• MyVariant Identifiers: chrX:g.107939658_107939659del (hg19) ; chrX:g.108696428_108696429del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696430_108696431del , CM000685.2:g.108696430_108696431del	GRCh38
NC_000023.10:g.107939660_107939661del , CM000685.1:g.107939660_107939661del	GRCh37
NC_000023.9:g.107826316_107826317del	NCBI36
NG_011977.1:g.261507_261508del
NG_011977.2:g.261507_261508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*52_*53del MANE Select	ENSP00000331902.7:n.*52_*53del
ENST00000361603.7:c.*52_*53del	ENSP00000354505.2:n.*52_*53del
ENST00000644079.1:n.2816_2817del
ENST00000328300.10:c.*52_*53del	ENSP00000331902.6:n.*52_*53del
ENST00000361603.6:c.*52_*53del	ENSP00000354505.2:n.*52_*53del
ENST00000504541.1:c.353_354del	ENSP00000424845.1:n.353_354del
ENST00000515658.1:c.458_459del
NM_000495.4:c.*52_*53del	NP_000486.1:n.*52_*53del
NM_033380.2:c.*52_*53del	NP_203699.1:n.*52_*53del
XM_005262070.2:c.*52_*53del	XP_005262127.1:n.*52_*53del
XM_006724616.2:c.*52_*53del	XP_006724679.1:n.*52_*53del
XM_011530849.1:c.*52_*53del	XP_011529151.1:n.*52_*53del
XM_011530851.1:c.*52_*53del	XP_011529153.1:n.*52_*53del
XM_011530849.2:c.*52_*53del	XP_011529151.2:n.*52_*53del
XM_017029259.2:c.*52_*53del	XP_016884748.1:n.*52_*53del
XM_017029260.1:c.*52_*53del	XP_016884749.1:n.*52_*53del
XM_017029263.2:c.*52_*53del	XP_016884752.1:n.*52_*53del
NM_000495.5:c.*52_*53del	NP_000486.1:n.*52_*53del
NM_033380.3:c.*52_*53del MANE Select	NP_203699.1:n.*52_*53del