Canonical Allele Identifier: CA2695235759

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108626274_108626291dup , CM000685.2:g.108626274_108626291dup	GRCh38
NC_000023.10:g.107869504_107869521dup , CM000685.1:g.107869504_107869521dup	GRCh37
NC_000023.9:g.107756160_107756177dup	NCBI36
NG_011977.1:g.191351_191368dup
NG_011977.2:g.191351_191368dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3171_3188dup MANE Select	ENSP00000331902.7:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
ENST00000361603.7:c.3171_3188dup	ENSP00000354505.2:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
ENST00000328300.10:c.3171_3188dup	ENSP00000331902.6:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
ENST00000361603.6:c.3171_3188dup	ENSP00000354505.2:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
ENST00000483338.1:n.2627_2644dup
ENST00000505728.1:c.404_421dup
NM_000495.4:c.3171_3188dup	NP_000486.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
NM_033380.2:c.3171_3188dup	NP_203699.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
XM_005262070.2:c.3171_3188dup	XP_005262127.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
XM_005262072.3:c.3171_3188dup	XP_005262129.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
XM_006724616.2:c.3171_3188dup	XP_006724679.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
XM_011530849.1:c.2847_2864dup	XP_011529151.1:p.Gly955_Asp956insLeuProGlyGlnLysGly
XM_011530850.1:c.3171_3188dup	XP_011529152.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
XM_011530851.1:c.744_761dup	XP_011529153.1:p.Gly254_Asp255insLeuProGlyGlnLysGly
XM_011530849.2:c.3186_3203dup	XP_011529151.2:p.Gly1068_Asp1069insLeuProGlyGlnLysGly
XM_017029259.2:c.3186_3203dup	XP_016884748.1:p.Gly1068_Asp1069insLeuProGlyGlnLysGly
XM_017029260.1:c.3186_3203dup	XP_016884749.1:p.Gly1068_Asp1069insLeuProGlyGlnLysGly
XM_017029261.1:c.3186_3203dup	XP_016884750.1:p.Gly1068_Asp1069insLeuProGlyGlnLysGly
XM_017029262.2:c.3186_3203dup	XP_016884751.1:p.Gly1068_Asp1069insLeuProGlyGlnLysGly
XM_017029263.2:c.1506_1523dup	XP_016884752.1:p.Gly508_Asp509insLeuProGlyGlnLysGly
NM_000495.5:c.3171_3188dup	NP_000486.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly
NM_033380.3:c.3171_3188dup MANE Select	NP_203699.1:p.Gly1063_Asp1064insLeuProGlyGlnLysGly