Canonical Allele Identifier: CA2557059797

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108568955_108568956insCCAAGATTAAA , CM000685.2:g.108568955_108568956insCCAAGATTAAA	GRCh38
NC_000023.10:g.107812185_107812186insCCAAGATTAAA , CM000685.1:g.107812185_107812186insCCAAGATTAAA	GRCh37
NC_000023.9:g.107698841_107698842insCCAAGATTAAA	NCBI36
NG_011977.1:g.134032_134033insCCAAGATTAAA
NG_011977.2:g.134032_134033insCCAAGATTAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.384+134_384+135insCCAAGATTAAA MANE Select	ENSP00000331902.7:n.384+134_384+135insCCAAGATTAAA
ENST00000361603.7:c.384+134_384+135insCCAAGATTAAA	ENSP00000354505.2:n.384+134_384+135insCCAAGATTAAA
ENST00000328300.10:c.384+134_384+135insCCAAGATTAAA	ENSP00000331902.6:n.384+134_384+135insCCAAGATTAAA
ENST00000361603.6:c.384+134_384+135insCCAAGATTAAA	ENSP00000354505.2:n.384+134_384+135insCCAAGATTAAA
ENST00000470339.1:n.702_703insCCAAGATTAAA
NM_000495.4:c.384+134_384+135insCCAAGATTAAA	NP_000486.1:n.384+134_384+135insCCAAGATTAAA
NM_033380.2:c.384+134_384+135insCCAAGATTAAA	NP_203699.1:n.384+134_384+135insCCAAGATTAAA
XM_005262070.2:c.384+134_384+135insCCAAGATTAAA	XP_005262127.1:n.384+134_384+135insCCAAGATTAAA
XM_005262072.3:c.384+134_384+135insCCAAGATTAAA	XP_005262129.1:n.384+134_384+135insCCAAGATTAAA
XM_006724616.2:c.384+134_384+135insCCAAGATTAAA	XP_006724679.1:n.384+134_384+135insCCAAGATTAAA
XM_011530849.1:c.60+134_60+135insCCAAGATTAAA	XP_011529151.1:n.60+134_60+135insCCAAGATTAAA
XM_011530850.1:c.384+134_384+135insCCAAGATTAAA	XP_011529152.1:n.384+134_384+135insCCAAGATTAAA
XM_011530849.2:c.399+134_399+135insCCAAGATTAAA	XP_011529151.2:n.399+134_399+135insCCAAGATTAAA
XM_017029259.2:c.399+134_399+135insCCAAGATTAAA	XP_016884748.1:n.399+134_399+135insCCAAGATTAAA
XM_017029260.1:c.399+134_399+135insCCAAGATTAAA	XP_016884749.1:n.399+134_399+135insCCAAGATTAAA
XM_017029261.1:c.399+134_399+135insCCAAGATTAAA	XP_016884750.1:n.399+134_399+135insCCAAGATTAAA
XM_017029262.2:c.399+134_399+135insCCAAGATTAAA	XP_016884751.1:n.399+134_399+135insCCAAGATTAAA
NM_000495.5:c.384+134_384+135insCCAAGATTAAA	NP_000486.1:n.384+134_384+135insCCAAGATTAAA
NM_033380.3:c.384+134_384+135insCCAAGATTAAA MANE Select	NP_203699.1:n.384+134_384+135insCCAAGATTAAA