Canonical Allele Identifier: CA2522279676

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440199_108440200del , CM000685.2:g.108440199_108440200del	GRCh38
NC_000023.10:g.107683429_107683430del , CM000685.1:g.107683429_107683430del	GRCh37
NC_000023.9:g.107570085_107570086del	NCBI36
NG_011977.1:g.5276_5277del
NG_012059.2:g.4277_4278del
NG_011977.2:g.5276_5277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.74_75del MANE Select	ENSP00000331902.7:p.Glu25GlyfsTer14
ENST00000361603.7:c.74_75del	ENSP00000354505.2:p.Glu25GlyfsTer14
ENST00000642185.1:c.74_75del	ENSP00000495101.1:p.Glu25GlyfsTer23
ENST00000328300.10:c.74_75del	ENSP00000331902.6:p.Glu25GlyfsTer14
ENST00000361603.6:c.74_75del	ENSP00000354505.2:p.Glu25GlyfsTer14
ENST00000470339.1:n.258_259del
ENST00000477429.1:n.356_357del
NM_000495.4:c.74_75del	NP_000486.1:p.Glu25GlyfsTer14
NM_033380.2:c.74_75del	NP_203699.1:p.Glu25GlyfsTer14
XM_005262070.2:c.74_75del	XP_005262127.1:p.Glu25GlyfsTer14
XM_005262072.3:c.74_75del	XP_005262129.1:p.Glu25GlyfsTer14
XM_006724616.2:c.74_75del	XP_006724679.1:p.Glu25GlyfsTer14
XM_011530850.1:c.74_75del	XP_011529152.1:p.Glu25GlyfsTer14
NM_000495.5:c.74_75del	NP_000486.1:p.Glu25GlyfsTer14
NM_033380.3:c.74_75del MANE Select	NP_203699.1:p.Glu25GlyfsTer14