Canonical Allele Identifier: CA2580100318

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1708282
• ClinVar RCV Id: RCV002287655

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108601946_108601947insATTG , CM000685.2:g.108601946_108601947insATTG	GRCh38
NC_000023.10:g.107845176_107845177insATTG , CM000685.1:g.107845176_107845177insATTG	GRCh37
NC_000023.9:g.107731832_107731833insATTG	NCBI36
NG_011977.1:g.167023_167024insATTG
NG_011977.2:g.167023_167024insATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2103_2104insATTG MANE Select	ENSP00000331902.7:p.Gly702IlefsTer?
ENST00000361603.7:c.2103_2104insATTG	ENSP00000354505.2:p.Gly702IlefsTer?
ENST00000328300.10:c.2103_2104insATTG	ENSP00000331902.6:p.Gly702IlefsTer?
ENST00000361603.6:c.2103_2104insATTG	ENSP00000354505.2:p.Gly702IlefsTer?
ENST00000483338.1:n.1559_1560insATTG
NM_000495.4:c.2103_2104insATTG	NP_000486.1:p.Gly702IlefsTer?
NM_033380.2:c.2103_2104insATTG	NP_203699.1:p.Gly702IlefsTer?
XM_005262070.2:c.2103_2104insATTG	XP_005262127.1:p.Gly702IlefsTer?
XM_005262072.3:c.2103_2104insATTG	XP_005262129.1:p.Gly702IlefsTer?
XM_006724616.2:c.2103_2104insATTG	XP_006724679.1:p.Gly702IlefsTer?
XM_011530849.1:c.1779_1780insATTG	XP_011529151.1:p.Gly594IlefsTer?
XM_011530850.1:c.2103_2104insATTG	XP_011529152.1:p.Gly702IlefsTer?
XM_011530849.2:c.2118_2119insATTG	XP_011529151.2:p.Gly707IlefsTer?
XM_017029259.2:c.2118_2119insATTG	XP_016884748.1:p.Gly707IlefsTer?
XM_017029260.1:c.2118_2119insATTG	XP_016884749.1:p.Gly707IlefsTer?
XM_017029261.1:c.2118_2119insATTG	XP_016884750.1:p.Gly707IlefsTer?
XM_017029262.2:c.2118_2119insATTG	XP_016884751.1:p.Gly707IlefsTer?
XM_017029263.2:c.438_439insATTG	XP_016884752.1:p.Gly147IlefsTer?
NM_000495.5:c.2103_2104insATTG	NP_000486.1:p.Gly702IlefsTer?
NM_033380.3:c.2103_2104insATTG MANE Select	NP_203699.1:p.Gly702IlefsTer?