Canonical Allele Identifier: CA2450717252

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681867_108681868delinsCA , CM000685.2:g.108681867_108681868delinsCA	GRCh38
NC_000023.10:g.107925097_107925098delinsCA , CM000685.1:g.107925097_107925098delinsCA	GRCh37
NC_000023.9:g.107811753_107811754delinsCA	NCBI36
NG_011977.1:g.246944_246945delinsCA
NG_011977.2:g.246944_246945delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4195_4196delinsCA MANE Select	ENSP00000331902.7:p.Gln1399=
ENST00000361603.7:c.4177_4178delinsCA	ENSP00000354505.2:p.Gln1393=
ENST00000510690.2:n.689_690delinsCA
ENST00000328300.10:c.4195_4196delinsCA	ENSP00000331902.6:p.Gln1399=
ENST00000361603.6:c.4177_4178delinsCA	ENSP00000354505.2:p.Gln1393=
ENST00000489230.1:n.598_599delinsCA
NM_000495.4:c.4177_4178delinsCA	NP_000486.1:p.Gln1393=
NM_033380.2:c.4195_4196delinsCA	NP_203699.1:p.Gln1399=
XM_005262070.2:c.4186_4187delinsCA	XP_005262127.1:p.Gln1396=
XM_006724616.2:c.4195_4196delinsCA	XP_006724679.1:p.Gln1399=
XM_011530849.1:c.3871_3872delinsCA	XP_011529151.1:p.Gln1291=
XM_011530851.1:c.1768_1769delinsCA	XP_011529153.1:p.Gln590=
XM_011530849.2:c.4210_4211delinsCA	XP_011529151.2:p.Gln1404=
XM_017029259.2:c.4201_4202delinsCA	XP_016884748.1:p.Gln1401=
XM_017029260.1:c.4192_4193delinsCA	XP_016884749.1:p.Gln1398=
XM_017029263.2:c.2530_2531delinsCA	XP_016884752.1:p.Gln844=
NM_000495.5:c.4177_4178delinsCA	NP_000486.1:p.Gln1393=
NM_033380.3:c.4195_4196delinsCA MANE Select	NP_203699.1:p.Gln1399=