Canonical Allele Identifier: CA2694438240

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439944-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439946del , CM000685.2:g.108439946del	GRCh38
NC_000023.10:g.107683176del , CM000685.1:g.107683176del	GRCh37
NC_000023.9:g.107569832del	NCBI36
NG_011977.1:g.5023del
NG_012059.2:g.4530del
NG_011977.2:g.5023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-180del MANE Select	ENSP00000331902.7:n.-180del
ENST00000361603.7:c.-180del	ENSP00000354505.2:n.-180del
ENST00000642185.1:c.-180del	ENSP00000495101.1:n.-180del
ENST00000328300.10:c.-180del	ENSP00000331902.6:n.-180del
ENST00000361603.6:c.-180del	ENSP00000354505.2:n.-180del
ENST00000470339.1:n.5del
ENST00000477429.1:n.103del
NM_000495.4:c.-180del	NP_000486.1:n.-180del
NM_033380.2:c.-180del	NP_203699.1:n.-180del
XM_005262070.2:c.-180del	XP_005262127.1:n.-180del
XM_005262072.3:c.-180del	XP_005262129.1:n.-180del
XM_006724616.2:c.-120-60del	XP_006724679.1:n.-120-60del
XM_011530850.1:c.-180del	XP_011529152.1:n.-180del
NM_000495.5:c.-180del	NP_000486.1:n.-180del
NM_033380.3:c.-180del MANE Select	NP_203699.1:n.-180del