Canonical Allele Identifier: CA2450634714

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440263_108440264delinsCT , CM000685.2:g.108440263_108440264delinsCT	GRCh38
NC_000023.10:g.107683493_107683494delinsCT , CM000685.1:g.107683493_107683494delinsCT	GRCh37
NC_000023.9:g.107570149_107570150delinsCT	NCBI36
NG_011977.1:g.5340_5341delinsCT
NG_012059.2:g.4211_4212delinsAG
NG_011977.2:g.5340_5341delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.81+57_81+58delinsCT MANE Select	ENSP00000331902.7:n.81+57_81+58delinsCT
ENST00000361603.7:c.81+57_81+58delinsCT	ENSP00000354505.2:n.81+57_81+58delinsCT
ENST00000642185.1:c.81+57_81+58delinsCT	ENSP00000495101.1:n.81+57_81+58delinsCT
ENST00000328300.10:c.81+57_81+58delinsCT	ENSP00000331902.6:n.81+57_81+58delinsCT
ENST00000361603.6:c.81+57_81+58delinsCT	ENSP00000354505.2:n.81+57_81+58delinsCT
ENST00000470339.1:n.265+57_265+58delinsCT
ENST00000477429.1:n.363+57_363+58delinsCT
NM_000495.4:c.81+57_81+58delinsCT	NP_000486.1:n.81+57_81+58delinsCT
NM_033380.2:c.81+57_81+58delinsCT	NP_203699.1:n.81+57_81+58delinsCT
XM_005262070.2:c.81+57_81+58delinsCT	XP_005262127.1:n.81+57_81+58delinsCT
XM_005262072.3:c.81+57_81+58delinsCT	XP_005262129.1:n.81+57_81+58delinsCT
XM_006724616.2:c.81+57_81+58delinsCT	XP_006724679.1:n.81+57_81+58delinsCT
XM_011530850.1:c.81+57_81+58delinsCT	XP_011529152.1:n.81+57_81+58delinsCT
NM_000495.5:c.81+57_81+58delinsCT	NP_000486.1:n.81+57_81+58delinsCT
NM_033380.3:c.81+57_81+58delinsCT MANE Select	NP_203699.1:n.81+57_81+58delinsCT