Canonical Allele Identifier: CA2450634585

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439945_108439947delinsCCT , CM000685.2:g.108439945_108439947delinsCCT	GRCh38
NC_000023.10:g.107683175_107683177delinsCCT , CM000685.1:g.107683175_107683177delinsCCT	GRCh37
NC_000023.9:g.107569831_107569833delinsCCT	NCBI36
NG_011977.1:g.5022_5024delinsCCT
NG_012059.2:g.4528_4530delinsAGG
NG_011977.2:g.5022_5024delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-181_-179delinsCCT MANE Select	ENSP00000331902.7:n.-181_-179delinsCCT
ENST00000361603.7:c.-181_-179delinsCCT	ENSP00000354505.2:n.-181_-179delinsCCT
ENST00000642185.1:c.-181_-179delinsCCT	ENSP00000495101.1:n.-181_-179delinsCCT
ENST00000328300.10:c.-181_-179delinsCCT	ENSP00000331902.6:n.-181_-179delinsCCT
ENST00000361603.6:c.-181_-179delinsCCT	ENSP00000354505.2:n.-181_-179delinsCCT
ENST00000470339.1:n.4_6delinsCCT
ENST00000477429.1:n.102_104delinsCCT
NM_000495.4:c.-181_-179delinsCCT	NP_000486.1:n.-181_-179delinsCCT
NM_033380.2:c.-181_-179delinsCCT	NP_203699.1:n.-181_-179delinsCCT
XM_005262070.2:c.-181_-179delinsCCT	XP_005262127.1:n.-181_-179delinsCCT
XM_005262072.3:c.-181_-179delinsCCT	XP_005262129.1:n.-181_-179delinsCCT
XM_006724616.2:c.-120-61_-120-59delinsCCT	XP_006724679.1:n.-120-61_-120-59delinsCCT
XM_011530850.1:c.-181_-179delinsCCT	XP_011529152.1:n.-181_-179delinsCCT
NM_000495.5:c.-181_-179delinsCCT	NP_000486.1:n.-181_-179delinsCCT
NM_033380.3:c.-181_-179delinsCCT MANE Select	NP_203699.1:n.-181_-179delinsCCT