Canonical Allele Identifier: CA2694438263

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439959-T-TTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439960_108439961insCT , CM000685.2:g.108439960_108439961insCT	GRCh38
NC_000023.10:g.107683190_107683191insCT , CM000685.1:g.107683190_107683191insCT	GRCh37
NC_000023.9:g.107569846_107569847insCT	NCBI36
NG_011977.1:g.5037_5038insCT
NG_012059.2:g.4515_4516insGA
NG_011977.2:g.5037_5038insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-166_-165insCT MANE Select	ENSP00000331902.7:n.-166_-165insCT
ENST00000361603.7:c.-166_-165insCT	ENSP00000354505.2:n.-166_-165insCT
ENST00000642185.1:c.-166_-165insCT	ENSP00000495101.1:n.-166_-165insCT
ENST00000328300.10:c.-166_-165insCT	ENSP00000331902.6:n.-166_-165insCT
ENST00000361603.6:c.-166_-165insCT	ENSP00000354505.2:n.-166_-165insCT
ENST00000470339.1:n.19_20insCT
ENST00000477429.1:n.117_118insCT
NM_000495.4:c.-166_-165insCT	NP_000486.1:n.-166_-165insCT
NM_033380.2:c.-166_-165insCT	NP_203699.1:n.-166_-165insCT
XM_005262070.2:c.-166_-165insCT	XP_005262127.1:n.-166_-165insCT
XM_005262072.3:c.-166_-165insCT	XP_005262129.1:n.-166_-165insCT
XM_006724616.2:c.-120-46_-120-45insCT	XP_006724679.1:n.-120-46_-120-45insCT
XM_011530850.1:c.-166_-165insCT	XP_011529152.1:n.-166_-165insCT
NM_000495.5:c.-166_-165insCT	NP_000486.1:n.-166_-165insCT
NM_033380.3:c.-166_-165insCT MANE Select	NP_203699.1:n.-166_-165insCT