Canonical Allele Identifier: CA2450634586

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439945_108439948delinsCCTT , CM000685.2:g.108439945_108439948delinsCCTT	GRCh38
NC_000023.10:g.107683175_107683178delinsCCTT , CM000685.1:g.107683175_107683178delinsCCTT	GRCh37
NC_000023.9:g.107569831_107569834delinsCCTT	NCBI36
NG_011977.1:g.5022_5025delinsCCTT
NG_012059.2:g.4527_4530delinsAAGG
NG_011977.2:g.5022_5025delinsCCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.-181_-178delinsCCTT MANE Select	ENSP00000331902.7:n.-181_-178delinsCCTT
ENST00000361603.7:c.-181_-178delinsCCTT	ENSP00000354505.2:n.-181_-178delinsCCTT
ENST00000642185.1:c.-181_-178delinsCCTT	ENSP00000495101.1:n.-181_-178delinsCCTT
ENST00000328300.10:c.-181_-178delinsCCTT	ENSP00000331902.6:n.-181_-178delinsCCTT
ENST00000361603.6:c.-181_-178delinsCCTT	ENSP00000354505.2:n.-181_-178delinsCCTT
ENST00000470339.1:n.4_7delinsCCTT
ENST00000477429.1:n.102_105delinsCCTT
NM_000495.4:c.-181_-178delinsCCTT	NP_000486.1:n.-181_-178delinsCCTT
NM_033380.2:c.-181_-178delinsCCTT	NP_203699.1:n.-181_-178delinsCCTT
XM_005262070.2:c.-181_-178delinsCCTT	XP_005262127.1:n.-181_-178delinsCCTT
XM_005262072.3:c.-181_-178delinsCCTT	XP_005262129.1:n.-181_-178delinsCCTT
XM_006724616.2:c.-120-61_-120-58delinsCCTT	XP_006724679.1:n.-120-61_-120-58delinsCCT...
XM_011530850.1:c.-181_-178delinsCCTT	XP_011529152.1:n.-181_-178delinsCCTT
NM_000495.5:c.-181_-178delinsCCTT	NP_000486.1:n.-181_-178delinsCCTT
NM_033380.3:c.-181_-178delinsCCTT MANE Select	NP_203699.1:n.-181_-178delinsCCTT