Canonical Allele Identifier: CA2739290530

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440193del , CM000685.2:g.108440193del	GRCh38
NC_000023.10:g.107683423del , CM000685.1:g.107683423del	GRCh37
NC_000023.9:g.107570079del	NCBI36
NG_011977.1:g.5270del
NG_012059.2:g.4283del
NG_011977.2:g.5270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.68del MANE Select	ENSP00000331902.7:p.Pro23LeufsTer21
ENST00000361603.7:c.68del	ENSP00000354505.2:p.Pro23LeufsTer21
ENST00000642185.1:c.68del	ENSP00000495101.1:p.Pro23LeufsTer14
ENST00000328300.10:c.68del	ENSP00000331902.6:p.Pro23LeufsTer21
ENST00000361603.6:c.68del	ENSP00000354505.2:p.Pro23LeufsTer21
ENST00000470339.1:n.252del
ENST00000477429.1:n.350del
NM_000495.4:c.68del	NP_000486.1:p.Pro23LeufsTer21
NM_033380.2:c.68del	NP_203699.1:p.Pro23LeufsTer21
XM_005262070.2:c.68del	XP_005262127.1:p.Pro23LeufsTer21
XM_005262072.3:c.68del	XP_005262129.1:p.Pro23LeufsTer21
XM_006724616.2:c.68del	XP_006724679.1:p.Pro23LeufsTer21
XM_011530850.1:c.68del	XP_011529152.1:p.Pro23LeufsTer21
NM_000495.5:c.68del	NP_000486.1:p.Pro23LeufsTer21
NM_033380.3:c.68del MANE Select	NP_203699.1:p.Pro23LeufsTer21