Canonical Allele Identifier: CA2450688168

Gene: COL4A5

Linked Data

• dbSNP Id: rs2066524603

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108596876_108596887del , CM000685.2:g.108596876_108596887del	GRCh38
NC_000023.10:g.107840106_107840117del , CM000685.1:g.107840106_107840117del	GRCh37
NC_000023.9:g.107726762_107726773del	NCBI36
NG_011977.1:g.161953_161964del
NG_011977.2:g.161953_161964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1517-122_1517-111del MANE Select	ENSP00000331902.7:n.1517-122_1517-111del
ENST00000361603.7:c.1517-122_1517-111del	ENSP00000354505.2:n.1517-122_1517-111del
ENST00000328300.10:c.1517-122_1517-111del	ENSP00000331902.6:n.1517-122_1517-111del
ENST00000361603.6:c.1517-122_1517-111del	ENSP00000354505.2:n.1517-122_1517-111del
ENST00000483338.1:n.973-122_973-111del
NM_000495.4:c.1517-122_1517-111del	NP_000486.1:n.1517-122_1517-111del
NM_033380.2:c.1517-122_1517-111del	NP_203699.1:n.1517-122_1517-111del
XM_005262070.2:c.1517-122_1517-111del	XP_005262127.1:n.1517-122_1517-111del
XM_005262072.3:c.1517-122_1517-111del	XP_005262129.1:n.1517-122_1517-111del
XM_006724616.2:c.1517-122_1517-111del	XP_006724679.1:n.1517-122_1517-111del
XM_011530849.1:c.1193-122_1193-111del	XP_011529151.1:n.1193-122_1193-111del
XM_011530850.1:c.1517-122_1517-111del	XP_011529152.1:n.1517-122_1517-111del
XM_011530849.2:c.1532-122_1532-111del	XP_011529151.2:n.1532-122_1532-111del
XM_017029259.2:c.1532-122_1532-111del	XP_016884748.1:n.1532-122_1532-111del
XM_017029260.1:c.1532-122_1532-111del	XP_016884749.1:n.1532-122_1532-111del
XM_017029261.1:c.1532-122_1532-111del	XP_016884750.1:n.1532-122_1532-111del
XM_017029262.2:c.1532-122_1532-111del	XP_016884751.1:n.1532-122_1532-111del
XM_017029263.2:c.-149-122_-149-111del	XP_016884752.1:n.-149-122_-149-111del
NM_000495.5:c.1517-122_1517-111del	NP_000486.1:n.1517-122_1517-111del
NM_033380.3:c.1517-122_1517-111del MANE Select	NP_203699.1:n.1517-122_1517-111del