Canonical Allele Identifier: CA2694414689

Gene: COL4A5

Linked Data

• gnomAD v4: X-108685951-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108685952del , CM000685.2:g.108685952del	GRCh38
NC_000023.10:g.107929182del , CM000685.1:g.107929182del	GRCh37
NC_000023.9:g.107815838del	NCBI36
NG_011977.1:g.251029del
NG_011977.2:g.251029del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4217-79del MANE Select	ENSP00000331902.7:n.4217-79del
ENST00000361603.7:c.4199-79del	ENSP00000354505.2:n.4199-79del
ENST00000510690.2:n.711-79del
ENST00000328300.10:c.4217-79del	ENSP00000331902.6:n.4217-79del
ENST00000361603.6:c.4199-79del	ENSP00000354505.2:n.4199-79del
ENST00000489230.1:n.620-79del
ENST00000515658.1:c.13-79del
NM_000495.4:c.4199-79del	NP_000486.1:n.4199-79del
NM_033380.2:c.4217-79del	NP_203699.1:n.4217-79del
XM_005262070.2:c.4208-79del	XP_005262127.1:n.4208-79del
XM_006724616.2:c.4217-79del	XP_006724679.1:n.4217-79del
XM_011530849.1:c.3893-79del	XP_011529151.1:n.3893-79del
XM_011530851.1:c.1790-79del	XP_011529153.1:n.1790-79del
XM_011530849.2:c.4232-79del	XP_011529151.2:n.4232-79del
XM_017029259.2:c.4223-79del	XP_016884748.1:n.4223-79del
XM_017029260.1:c.4214-79del	XP_016884749.1:n.4214-79del
XM_017029263.2:c.2552-79del	XP_016884752.1:n.2552-79del
NM_000495.5:c.4199-79del	NP_000486.1:n.4199-79del
NM_033380.3:c.4217-79del MANE Select	NP_203699.1:n.4217-79del