Canonical Allele Identifier: CA2695235194

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108582898_108582915dup , CM000685.2:g.108582898_108582915dup	GRCh38
NC_000023.10:g.107826128_107826145dup , CM000685.1:g.107826128_107826145dup	GRCh37
NC_000023.9:g.107712784_107712801dup	NCBI36
NG_011977.1:g.147975_147992dup
NG_011977.2:g.147975_147992dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.951_968dup MANE Select	ENSP00000331902.7:p.Gly322_Glu323insAspProGlyTyrProGly
ENST00000361603.7:c.951_968dup	ENSP00000354505.2:p.Gly322_Glu323insAspProGlyTyrProGly
ENST00000328300.10:c.951_968dup	ENSP00000331902.6:p.Gly322_Glu323insAspProGlyTyrProGly
ENST00000361603.6:c.951_968dup	ENSP00000354505.2:p.Gly322_Glu323insAspProGlyTyrProGly
ENST00000483338.1:n.407_424dup
NM_000495.4:c.951_968dup	NP_000486.1:p.Gly322_Glu323insAspProGlyTyrProGly
NM_033380.2:c.951_968dup	NP_203699.1:p.Gly322_Glu323insAspProGlyTyrProGly
XM_005262070.2:c.951_968dup	XP_005262127.1:p.Gly322_Glu323insAspProGlyTyrProGly
XM_005262072.3:c.951_968dup	XP_005262129.1:p.Gly322_Glu323insAspProGlyTyrProGly
XM_006724616.2:c.951_968dup	XP_006724679.1:p.Gly322_Glu323insAspProGlyTyrProGly
XM_011530849.1:c.627_644dup	XP_011529151.1:p.Gly214_Glu215insAspProGlyTyrProGly
XM_011530850.1:c.951_968dup	XP_011529152.1:p.Gly322_Glu323insAspProGlyTyrProGly
XM_011530849.2:c.966_983dup	XP_011529151.2:p.Gly327_Glu328insAspProGlyTyrProGly
XM_017029259.2:c.966_983dup	XP_016884748.1:p.Gly327_Glu328insAspProGlyTyrProGly
XM_017029260.1:c.966_983dup	XP_016884749.1:p.Gly327_Glu328insAspProGlyTyrProGly
XM_017029261.1:c.966_983dup	XP_016884750.1:p.Gly327_Glu328insAspProGlyTyrProGly
XM_017029262.2:c.966_983dup	XP_016884751.1:p.Gly327_Glu328insAspProGlyTyrProGly
XM_017029263.2:c.-759_-742dup	XP_016884752.1:n.-759_-742dup
NM_000495.5:c.951_968dup	NP_000486.1:p.Gly322_Glu323insAspProGlyTyrProGly
NM_033380.3:c.951_968dup MANE Select	NP_203699.1:p.Gly322_Glu323insAspProGlyTyrProGly