Canonical Allele Identifier: CA2694412109

Gene: COL4A5

Linked Data

• gnomAD v4: X-108597240-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108597242_108597243del , CM000685.2:g.108597242_108597243del	GRCh38
NC_000023.10:g.107840472_107840473del , CM000685.1:g.107840472_107840473del	GRCh37
NC_000023.9:g.107727128_107727129del	NCBI36
NG_011977.1:g.162319_162320del
NG_011977.2:g.162319_162320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.1588-135_1588-134del MANE Select	ENSP00000331902.7:n.1588-135_1588-134del
ENST00000361603.7:c.1588-135_1588-134del	ENSP00000354505.2:n.1588-135_1588-134del
ENST00000328300.10:c.1588-135_1588-134del	ENSP00000331902.6:n.1588-135_1588-134del
ENST00000361603.6:c.1588-135_1588-134del	ENSP00000354505.2:n.1588-135_1588-134del
ENST00000483338.1:n.1044-135_1044-134del
NM_000495.4:c.1588-135_1588-134del	NP_000486.1:n.1588-135_1588-134del
NM_033380.2:c.1588-135_1588-134del	NP_203699.1:n.1588-135_1588-134del
XM_005262070.2:c.1588-135_1588-134del	XP_005262127.1:n.1588-135_1588-134del
XM_005262072.3:c.1588-135_1588-134del	XP_005262129.1:n.1588-135_1588-134del
XM_006724616.2:c.1588-135_1588-134del	XP_006724679.1:n.1588-135_1588-134del
XM_011530849.1:c.1264-135_1264-134del	XP_011529151.1:n.1264-135_1264-134del
XM_011530850.1:c.1588-135_1588-134del	XP_011529152.1:n.1588-135_1588-134del
XM_011530849.2:c.1603-135_1603-134del	XP_011529151.2:n.1603-135_1603-134del
XM_017029259.2:c.1603-135_1603-134del	XP_016884748.1:n.1603-135_1603-134del
XM_017029260.1:c.1603-135_1603-134del	XP_016884749.1:n.1603-135_1603-134del
XM_017029261.1:c.1603-135_1603-134del	XP_016884750.1:n.1603-135_1603-134del
XM_017029262.2:c.1603-135_1603-134del	XP_016884751.1:n.1603-135_1603-134del
XM_017029263.2:c.-78-135_-78-134del	XP_016884752.1:n.-78-135_-78-134del
NM_000495.5:c.1588-135_1588-134del	NP_000486.1:n.1588-135_1588-134del
NM_033380.3:c.1588-135_1588-134del MANE Select	NP_203699.1:n.1588-135_1588-134del