Canonical Allele Identifier: CA2450634673

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108440173_108440175delinsCCT , CM000685.2:g.108440173_108440175delinsCCT	GRCh38
NC_000023.10:g.107683403_107683405delinsCCT , CM000685.1:g.107683403_107683405delinsCCT	GRCh37
NC_000023.9:g.107570059_107570061delinsCCT	NCBI36
NG_011977.1:g.5250_5252delinsCCT
NG_012059.2:g.4300_4302delinsAGG
NG_011977.2:g.5250_5252delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.48_50delinsCCT MANE Select	ENSP00000331902.7:p.Ala16=
ENST00000361603.7:c.48_50delinsCCT	ENSP00000354505.2:p.Ala16=
ENST00000642185.1:c.48_50delinsCCT	ENSP00000495101.1:p.Ala16=
ENST00000328300.10:c.48_50delinsCCT	ENSP00000331902.6:p.Ala16=
ENST00000361603.6:c.48_50delinsCCT	ENSP00000354505.2:p.Ala16=
ENST00000470339.1:n.232_234delinsCCT
ENST00000477429.1:n.330_332delinsCCT
NM_000495.4:c.48_50delinsCCT	NP_000486.1:p.Ala16=
NM_033380.2:c.48_50delinsCCT	NP_203699.1:p.Ala16=
XM_005262070.2:c.48_50delinsCCT	XP_005262127.1:p.Ala16=
XM_005262072.3:c.48_50delinsCCT	XP_005262129.1:p.Ala16=
XM_006724616.2:c.48_50delinsCCT	XP_006724679.1:p.Ala16=
XM_011530850.1:c.48_50delinsCCT	XP_011529152.1:p.Ala16=
NM_000495.5:c.48_50delinsCCT	NP_000486.1:p.Ala16=
NM_033380.3:c.48_50delinsCCT MANE Select	NP_203699.1:p.Ala16=