Canonical Allele Identifier: CA2694439964

Gene: COL4A5

Linked Data

• gnomAD v4: X-108620107-AGTTATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108620110_108620117del , CM000685.2:g.108620110_108620117del	GRCh38
NC_000023.10:g.107863340_107863347del , CM000685.1:g.107863340_107863347del	GRCh37
NC_000023.9:g.107749996_107750003del	NCBI36
NG_011977.1:g.185187_185194del
NG_011977.2:g.185187_185194del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2510-149_2510-142del MANE Select	ENSP00000331902.7:n.2510-149_2510-142del
ENST00000361603.7:c.2510-149_2510-142del	ENSP00000354505.2:n.2510-149_2510-142del
ENST00000328300.10:c.2510-149_2510-142del	ENSP00000331902.6:n.2510-149_2510-142del
ENST00000361603.6:c.2510-149_2510-142del	ENSP00000354505.2:n.2510-149_2510-142del
ENST00000483338.1:n.1966-149_1966-142del
NM_000495.4:c.2510-149_2510-142del	NP_000486.1:n.2510-149_2510-142del
NM_033380.2:c.2510-149_2510-142del	NP_203699.1:n.2510-149_2510-142del
XM_005262070.2:c.2510-149_2510-142del	XP_005262127.1:n.2510-149_2510-142del
XM_005262072.3:c.2510-149_2510-142del	XP_005262129.1:n.2510-149_2510-142del
XM_006724616.2:c.2510-149_2510-142del	XP_006724679.1:n.2510-149_2510-142del
XM_011530849.1:c.2186-149_2186-142del	XP_011529151.1:n.2186-149_2186-142del
XM_011530850.1:c.2510-149_2510-142del	XP_011529152.1:n.2510-149_2510-142del
XM_011530851.1:c.83-149_83-142del	XP_011529153.1:n.83-149_83-142del
XM_011530849.2:c.2525-149_2525-142del	XP_011529151.2:n.2525-149_2525-142del
XM_017029259.2:c.2525-149_2525-142del	XP_016884748.1:n.2525-149_2525-142del
XM_017029260.1:c.2525-149_2525-142del	XP_016884749.1:n.2525-149_2525-142del
XM_017029261.1:c.2525-149_2525-142del	XP_016884750.1:n.2525-149_2525-142del
XM_017029262.2:c.2525-149_2525-142del	XP_016884751.1:n.2525-149_2525-142del
XM_017029263.2:c.845-149_845-142del	XP_016884752.1:n.845-149_845-142del
NM_000495.5:c.2510-149_2510-142del	NP_000486.1:n.2510-149_2510-142del
NM_033380.3:c.2510-149_2510-142del MANE Select	NP_203699.1:n.2510-149_2510-142del