Canonical Allele Identifier: CA2499226317

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1067144
• ClinVar RCV Id: RCV001378328
• dbSNP Id: rs2147832375

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108606839_108606840delinsTG , CM000685.2:g.108606839_108606840delinsTG	GRCh38
NC_000023.10:g.107850069_107850070delinsTG , CM000685.1:g.107850069_107850070delinsTG	GRCh37
NC_000023.9:g.107736725_107736726delinsTG	NCBI36
NG_011977.1:g.171916_171917delinsTG
NG_011977.2:g.171916_171917delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.2342_2343delinsTG MANE Select	ENSP00000331902.7:p.Gly781Val
ENST00000361603.7:c.2342_2343delinsTG	ENSP00000354505.2:p.Gly781Val
ENST00000328300.10:c.2342_2343delinsTG	ENSP00000331902.6:p.Gly781Val
ENST00000361603.6:c.2342_2343delinsTG	ENSP00000354505.2:p.Gly781Val
ENST00000483338.1:n.1798_1799delinsTG
NM_000495.4:c.2342_2343delinsTG	NP_000486.1:p.Gly781Val
NM_033380.2:c.2342_2343delinsTG	NP_203699.1:p.Gly781Val
XM_005262070.2:c.2342_2343delinsTG	XP_005262127.1:p.Gly781Val
XM_005262072.3:c.2342_2343delinsTG	XP_005262129.1:p.Gly781Val
XM_006724616.2:c.2342_2343delinsTG	XP_006724679.1:p.Gly781Val
XM_011530849.1:c.2018_2019delinsTG	XP_011529151.1:p.Gly673Val
XM_011530850.1:c.2342_2343delinsTG	XP_011529152.1:p.Gly781Val
XM_011530851.1:c.-33+3778_-33+3779delinsTG	XP_011529153.1:n.-33+3778_-33+3779delinsTG
XM_011530849.2:c.2357_2358delinsTG	XP_011529151.2:p.Gly786Val
XM_017029259.2:c.2357_2358delinsTG	XP_016884748.1:p.Gly786Val
XM_017029260.1:c.2357_2358delinsTG	XP_016884749.1:p.Gly786Val
XM_017029261.1:c.2357_2358delinsTG	XP_016884750.1:p.Gly786Val
XM_017029262.2:c.2357_2358delinsTG	XP_016884751.1:p.Gly786Val
XM_017029263.2:c.677_678delinsTG	XP_016884752.1:p.Gly226Val
NM_000495.5:c.2342_2343delinsTG	NP_000486.1:p.Gly781Val
NM_033380.3:c.2342_2343delinsTG MANE Select	NP_203699.1:p.Gly781Val