Canonical Allele Identifier: CA2580100167

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2444221
• ClinVar RCV Id: RCV003153019

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108666540_108666545del , CM000685.2:g.108666540_108666545del	GRCh38
NC_000023.10:g.107909770_107909775del , CM000685.1:g.107909770_107909775del	GRCh37
NC_000023.9:g.107796426_107796431del	NCBI36
NG_011977.1:g.231617_231622del
NG_011977.2:g.231617_231622del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3499_3504del MANE Select	ENSP00000331902.7:p.Gly1167_Lys1168del
ENST00000361603.7:c.3499_3504del	ENSP00000354505.2:p.Gly1167_Lys1168del
ENST00000328300.10:c.3499_3504del	ENSP00000331902.6:p.Gly1167_Lys1168del
ENST00000361603.6:c.3499_3504del	ENSP00000354505.2:p.Gly1167_Lys1168del
NM_000495.4:c.3499_3504del	NP_000486.1:p.Gly1167_Lys1168del
NM_033380.2:c.3499_3504del	NP_203699.1:p.Gly1167_Lys1168del
XM_005262070.2:c.3499_3504del	XP_005262127.1:p.Gly1167_Lys1168del
XM_006724616.2:c.3499_3504del	XP_006724679.1:p.Gly1167_Lys1168del
XM_011530849.1:c.3175_3180del	XP_011529151.1:p.Gly1059_Lys1060del
XM_011530850.1:c.3499_3504del	XP_011529152.1:p.Gly1167_Lys1168del
XM_011530851.1:c.1072_1077del	XP_011529153.1:p.Gly358_Lys359del
XM_011530849.2:c.3514_3519del	XP_011529151.2:p.Gly1172_Lys1173del
XM_017029259.2:c.3514_3519del	XP_016884748.1:p.Gly1172_Lys1173del
XM_017029260.1:c.3514_3519del	XP_016884749.1:p.Gly1172_Lys1173del
XM_017029261.1:c.3514_3519del	XP_016884750.1:p.Gly1172_Lys1173del
XM_017029262.2:c.3514_3519del	XP_016884751.1:p.Gly1172_Lys1173del
XM_017029263.2:c.1834_1839del	XP_016884752.1:p.Gly612_Lys613del
NM_000495.5:c.3499_3504del	NP_000486.1:p.Gly1167_Lys1168del
NM_033380.3:c.3499_3504del MANE Select	NP_203699.1:p.Gly1167_Lys1168del