Canonical Allele Identifier: CA2579676447

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108606774_108606782dup , CM000685.2:g.108606774_108606782dup	GRCh38
NC_000023.10:g.107850004_107850012dup , CM000685.1:g.107850004_107850012dup	GRCh37
NC_000023.9:g.107736660_107736668dup	NCBI36
NG_011977.1:g.171851_171859dup
NG_011977.2:g.171851_171859dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2277_2285dup MANE Select	ENSP00000331902.7:p.Pro762_Gly763insGlyProPro
ENST00000361603.7:c.2277_2285dup	ENSP00000354505.2:p.Pro762_Gly763insGlyProPro
ENST00000328300.10:c.2277_2285dup	ENSP00000331902.6:p.Pro762_Gly763insGlyProPro
ENST00000361603.6:c.2277_2285dup	ENSP00000354505.2:p.Pro762_Gly763insGlyProPro
ENST00000483338.1:n.1733_1741dup
NM_000495.4:c.2277_2285dup	NP_000486.1:p.Pro762_Gly763insGlyProPro
NM_033380.2:c.2277_2285dup	NP_203699.1:p.Pro762_Gly763insGlyProPro
XM_005262070.2:c.2277_2285dup	XP_005262127.1:p.Pro762_Gly763insGlyProPro
XM_005262072.3:c.2277_2285dup	XP_005262129.1:p.Pro762_Gly763insGlyProPro
XM_006724616.2:c.2277_2285dup	XP_006724679.1:p.Pro762_Gly763insGlyProPro
XM_011530849.1:c.1953_1961dup	XP_011529151.1:p.Pro654_Gly655insGlyProPro
XM_011530850.1:c.2277_2285dup	XP_011529152.1:p.Pro762_Gly763insGlyProPro
XM_011530851.1:c.-33+3713_-33+3721dup	XP_011529153.1:n.-33+3713_-33+3721dup
XM_011530849.2:c.2292_2300dup	XP_011529151.2:p.Pro767_Gly768insGlyProPro
XM_017029259.2:c.2292_2300dup	XP_016884748.1:p.Pro767_Gly768insGlyProPro
XM_017029260.1:c.2292_2300dup	XP_016884749.1:p.Pro767_Gly768insGlyProPro
XM_017029261.1:c.2292_2300dup	XP_016884750.1:p.Pro767_Gly768insGlyProPro
XM_017029262.2:c.2292_2300dup	XP_016884751.1:p.Pro767_Gly768insGlyProPro
XM_017029263.2:c.612_620dup	XP_016884752.1:p.Pro207_Gly208insGlyProPro
NM_000495.5:c.2277_2285dup	NP_000486.1:p.Pro762_Gly763insGlyProPro
NM_033380.3:c.2277_2285dup MANE Select	NP_203699.1:p.Pro762_Gly763insGlyProPro