Canonical Allele Identifier: CA2450634588

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439949_108439966delinsCTTCTTCTTCTTTTTTTT , CM000685.2:g.108439949_108439966delinsCTTCTTCTTCTTTTTTTT	GRCh38
NC_000023.10:g.107683179_107683196delinsCTTCTTCTTCTTTTTTTT , CM000685.1:g.107683179_107683196delinsCTTCTTCTTCTTTTTTTT	GRCh37
NC_000023.9:g.107569835_107569852delinsCTTCTTCTTCTTTTTTTT	NCBI36
NG_011977.1:g.5026_5043delinsCTTCTTCTTCTTTTTTTT
NG_012059.2:g.4509_4526delinsAAAAAAAAGAAGAAGAAG
NG_011977.2:g.5026_5043delinsCTTCTTCTTCTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-177_-160delinsCTTCTTCTTCTTTTTTTT MANE Select	ENSP00000331902.7:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
ENST00000361603.7:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	ENSP00000354505.2:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
ENST00000642185.1:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	ENSP00000495101.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
ENST00000328300.10:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	ENSP00000331902.6:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
ENST00000361603.6:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	ENSP00000354505.2:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
ENST00000470339.1:n.8_25delinsCTTCTTCTTCTTTTTTTT
ENST00000477429.1:n.106_123delinsCTTCTTCTTCTTTTTTTT
NM_000495.4:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	NP_000486.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
NM_033380.2:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	NP_203699.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
XM_005262070.2:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	XP_005262127.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
XM_005262072.3:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	XP_005262129.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
XM_006724616.2:c.-120-57_-120-40delinsCTTCTTCTTCTTTTTTTT	XP_006724679.1:n.-120-57_-120-40delinsCTTCTTCTTCTTTTTTTT
XM_011530850.1:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	XP_011529152.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
NM_000495.5:c.-177_-160delinsCTTCTTCTTCTTTTTTTT	NP_000486.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT
NM_033380.3:c.-177_-160delinsCTTCTTCTTCTTTTTTTT MANE Select	NP_203699.1:n.-177_-160delinsCTTCTTCTTCTTTTTTTT