Canonical Allele Identifier: CA2450688189

Gene: COL4A5

Linked Data

• dbSNP Id: rs1207542264
• gnomAD v4: X-108596958-ATTGTGTGTGTGTGTGTTTGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108596976_108596995del , CM000685.2:g.108596976_108596995del	GRCh38
NC_000023.10:g.107840206_107840225del , CM000685.1:g.107840206_107840225del	GRCh37
NC_000023.9:g.107726862_107726881del	NCBI36
NG_011977.1:g.162053_162072del
NG_011977.2:g.162053_162072del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.1517-22_1517-3del MANE Select	ENSP00000331902.7:n.1517-22_1517-3del
ENST00000361603.7:c.1517-22_1517-3del	ENSP00000354505.2:n.1517-22_1517-3del
ENST00000328300.10:c.1517-22_1517-3del	ENSP00000331902.6:n.1517-22_1517-3del
ENST00000361603.6:c.1517-22_1517-3del	ENSP00000354505.2:n.1517-22_1517-3del
ENST00000483338.1:n.973-22_973-3del
NM_000495.4:c.1517-22_1517-3del	NP_000486.1:n.1517-22_1517-3del
NM_033380.2:c.1517-22_1517-3del	NP_203699.1:n.1517-22_1517-3del
XM_005262070.2:c.1517-22_1517-3del	XP_005262127.1:n.1517-22_1517-3del
XM_005262072.3:c.1517-22_1517-3del	XP_005262129.1:n.1517-22_1517-3del
XM_006724616.2:c.1517-22_1517-3del	XP_006724679.1:n.1517-22_1517-3del
XM_011530849.1:c.1193-22_1193-3del	XP_011529151.1:n.1193-22_1193-3del
XM_011530850.1:c.1517-22_1517-3del	XP_011529152.1:n.1517-22_1517-3del
XM_011530849.2:c.1532-22_1532-3del	XP_011529151.2:n.1532-22_1532-3del
XM_017029259.2:c.1532-22_1532-3del	XP_016884748.1:n.1532-22_1532-3del
XM_017029260.1:c.1532-22_1532-3del	XP_016884749.1:n.1532-22_1532-3del
XM_017029261.1:c.1532-22_1532-3del	XP_016884750.1:n.1532-22_1532-3del
XM_017029262.2:c.1532-22_1532-3del	XP_016884751.1:n.1532-22_1532-3del
XM_017029263.2:c.-149-22_-149-3del	XP_016884752.1:n.-149-22_-149-3del
NM_000495.5:c.1517-22_1517-3del	NP_000486.1:n.1517-22_1517-3del
NM_033380.3:c.1517-22_1517-3del MANE Select	NP_203699.1:n.1517-22_1517-3del