Canonical Allele Identifier: CA2694414058

Gene: COL4A5

Linked Data

• gnomAD v4: X-108601970-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108601972del , CM000685.2:g.108601972del	GRCh38
NC_000023.10:g.107845202del , CM000685.1:g.107845202del	GRCh37
NC_000023.9:g.107731858del	NCBI36
NG_011977.1:g.167049del
NG_011977.2:g.167049del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.2129del MANE Select	ENSP00000331902.7:p.Gly710AspfsTer26
ENST00000361603.7:c.2129del	ENSP00000354505.2:p.Gly710AspfsTer26
ENST00000328300.10:c.2129del	ENSP00000331902.6:p.Gly710AspfsTer26
ENST00000361603.6:c.2129del	ENSP00000354505.2:p.Gly710AspfsTer26
ENST00000483338.1:n.1585del
NM_000495.4:c.2129del	NP_000486.1:p.Gly710AspfsTer26
NM_033380.2:c.2129del	NP_203699.1:p.Gly710AspfsTer26
XM_005262070.2:c.2129del	XP_005262127.1:p.Gly710AspfsTer26
XM_005262072.3:c.2129del	XP_005262129.1:p.Gly710AspfsTer26
XM_006724616.2:c.2129del	XP_006724679.1:p.Gly710AspfsTer26
XM_011530849.1:c.1805del	XP_011529151.1:p.Gly602AspfsTer26
XM_011530850.1:c.2129del	XP_011529152.1:p.Gly710AspfsTer26
XM_011530849.2:c.2144del	XP_011529151.2:p.Gly715AspfsTer26
XM_017029259.2:c.2144del	XP_016884748.1:p.Gly715AspfsTer26
XM_017029260.1:c.2144del	XP_016884749.1:p.Gly715AspfsTer26
XM_017029261.1:c.2144del	XP_016884750.1:p.Gly715AspfsTer26
XM_017029262.2:c.2144del	XP_016884751.1:p.Gly715AspfsTer26
XM_017029263.2:c.464del	XP_016884752.1:p.Gly155AspfsTer26
NM_000495.5:c.2129del	NP_000486.1:p.Gly710AspfsTer26
NM_033380.3:c.2129del MANE Select	NP_203699.1:p.Gly710AspfsTer26