Canonical Allele Identifier: CA2694413727

Gene: COL4A5

Linked Data

• gnomAD v4: X-108582822-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108582824_108582825del , CM000685.2:g.108582824_108582825del	GRCh38
NC_000023.10:g.107826054_107826055del , CM000685.1:g.107826054_107826055del	GRCh37
NC_000023.9:g.107712710_107712711del	NCBI36
NG_011977.1:g.147901_147902del
NG_011977.2:g.147901_147902del

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.937-60_937-59del MANE Select	ENSP00000331902.7:n.937-60_937-59del
ENST00000361603.7:c.937-60_937-59del	ENSP00000354505.2:n.937-60_937-59del
ENST00000328300.10:c.937-60_937-59del	ENSP00000331902.6:n.937-60_937-59del
ENST00000361603.6:c.937-60_937-59del	ENSP00000354505.2:n.937-60_937-59del
ENST00000483338.1:n.333_334del
NM_000495.4:c.937-60_937-59del	NP_000486.1:n.937-60_937-59del
NM_033380.2:c.937-60_937-59del	NP_203699.1:n.937-60_937-59del
XM_005262070.2:c.937-60_937-59del	XP_005262127.1:n.937-60_937-59del
XM_005262072.3:c.937-60_937-59del	XP_005262129.1:n.937-60_937-59del
XM_006724616.2:c.937-60_937-59del	XP_006724679.1:n.937-60_937-59del
XM_011530849.1:c.613-60_613-59del	XP_011529151.1:n.613-60_613-59del
XM_011530850.1:c.937-60_937-59del	XP_011529152.1:n.937-60_937-59del
XM_011530849.2:c.952-60_952-59del	XP_011529151.2:n.952-60_952-59del
XM_017029259.2:c.952-60_952-59del	XP_016884748.1:n.952-60_952-59del
XM_017029260.1:c.952-60_952-59del	XP_016884749.1:n.952-60_952-59del
XM_017029261.1:c.952-60_952-59del	XP_016884750.1:n.952-60_952-59del
XM_017029262.2:c.952-60_952-59del	XP_016884751.1:n.952-60_952-59del
NM_000495.5:c.937-60_937-59del	NP_000486.1:n.937-60_937-59del
NM_033380.3:c.937-60_937-59del MANE Select	NP_203699.1:n.937-60_937-59del