Canonical Allele Identifier: CA1136179644

Gene: COL4A5

Linked Data

• dbSNP Id: rs2067087172
• gnomAD v3: X-108623032-A-ATCACGAGCT
• gnomAD v4: X-108623032-A-ATCACGAGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108623034_108623042dup , CM000685.2:g.108623034_108623042dup	GRCh38
NC_000023.10:g.107866264_107866272dup , CM000685.1:g.107866264_107866272dup	GRCh37
NC_000023.9:g.107752920_107752928dup	NCBI36
NG_011977.1:g.188111_188119dup
NG_011977.2:g.188111_188119dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2917+209_2917+217dup MANE Select	ENSP00000331902.7:n.2917+209_2917+217dup
ENST00000361603.7:c.2917+209_2917+217dup	ENSP00000354505.2:n.2917+209_2917+217dup
ENST00000328300.10:c.2917+209_2917+217dup	ENSP00000331902.6:n.2917+209_2917+217dup
ENST00000361603.6:c.2917+209_2917+217dup	ENSP00000354505.2:n.2917+209_2917+217dup
ENST00000483338.1:n.2373+209_2373+217dup
ENST00000505728.1:c.150+209_150+217dup
NM_000495.4:c.2917+209_2917+217dup	NP_000486.1:n.2917+209_2917+217dup
NM_033380.2:c.2917+209_2917+217dup	NP_203699.1:n.2917+209_2917+217dup
XM_005262070.2:c.2917+209_2917+217dup	XP_005262127.1:n.2917+209_2917+217dup
XM_005262072.3:c.2917+209_2917+217dup	XP_005262129.1:n.2917+209_2917+217dup
XM_006724616.2:c.2917+209_2917+217dup	XP_006724679.1:n.2917+209_2917+217dup
XM_011530849.1:c.2593+209_2593+217dup	XP_011529151.1:n.2593+209_2593+217dup
XM_011530850.1:c.2917+209_2917+217dup	XP_011529152.1:n.2917+209_2917+217dup
XM_011530851.1:c.490+209_490+217dup	XP_011529153.1:n.490+209_490+217dup
XM_011530849.2:c.2932+209_2932+217dup	XP_011529151.2:n.2932+209_2932+217dup
XM_017029259.2:c.2932+209_2932+217dup	XP_016884748.1:n.2932+209_2932+217dup
XM_017029260.1:c.2932+209_2932+217dup	XP_016884749.1:n.2932+209_2932+217dup
XM_017029261.1:c.2932+209_2932+217dup	XP_016884750.1:n.2932+209_2932+217dup
XM_017029262.2:c.2932+209_2932+217dup	XP_016884751.1:n.2932+209_2932+217dup
XM_017029263.2:c.1252+209_1252+217dup	XP_016884752.1:n.1252+209_1252+217dup
NM_000495.5:c.2917+209_2917+217dup	NP_000486.1:n.2917+209_2917+217dup
NM_033380.3:c.2917+209_2917+217dup MANE Select	NP_203699.1:n.2917+209_2917+217dup