Canonical Allele Identifier: CA915940747

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 2064835
• ClinVar RCV Id: RCV002928907

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440157_108440158delinsTT , CM000685.2:g.108440157_108440158delinsTT	GRCh38
NC_000023.10:g.107683387_107683388delinsTT , CM000685.1:g.107683387_107683388delinsTT	GRCh37
NC_000023.9:g.107570043_107570044delinsTT	NCBI36
NG_011977.1:g.5234_5235delinsTT
NG_012059.2:g.4317_4318delinsAA
NG_011977.2:g.5234_5235delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.32_33delinsTT MANE Select	ENSP00000331902.7:p.Gly11Val
ENST00000361603.7:c.32_33delinsTT	ENSP00000354505.2:p.Gly11Val
ENST00000642185.1:c.32_33delinsTT	ENSP00000495101.1:p.Gly11Val
ENST00000328300.10:c.32_33delinsTT	ENSP00000331902.6:p.Gly11Val
ENST00000361603.6:c.32_33delinsTT	ENSP00000354505.2:p.Gly11Val
ENST00000470339.1:n.216_217delinsTT
ENST00000477429.1:n.314_315delinsTT
NM_000495.4:c.32_33delinsTT	NP_000486.1:p.Gly11Val
NM_033380.2:c.32_33delinsTT	NP_203699.1:p.Gly11Val
XM_005262070.2:c.32_33delinsTT	XP_005262127.1:p.Gly11Val
XM_005262072.3:c.32_33delinsTT	XP_005262129.1:p.Gly11Val
XM_006724616.2:c.32_33delinsTT	XP_006724679.1:p.Gly11Val
XM_011530850.1:c.32_33delinsTT	XP_011529152.1:p.Gly11Val
NM_000495.5:c.32_33delinsTT	NP_000486.1:p.Gly11Val
NM_033380.3:c.32_33delinsTT MANE Select	NP_203699.1:p.Gly11Val