Canonical Allele Identifier: CA2450722178

Gene: COL4A5

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108696614_108696621delinsTTTGGGTC , CM000685.2:g.108696614_108696621delinsTTTGGGTC	GRCh38
NC_000023.10:g.107939844_107939851delinsTTTGGGTC , CM000685.1:g.107939844_107939851delinsTTTGGGTC	GRCh37
NC_000023.9:g.107826500_107826507delinsTTTGGGTC	NCBI36
NG_011977.1:g.261691_261698delinsTTTGGGTC
NG_011977.2:g.261691_261698delinsTTTGGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.*236_*243delinsTTTGGGTC MANE Select	ENSP00000331902.7:n.*236_*243delinsTTTGGGTC
ENST00000361603.7:c.*236_*243delinsTTTGGGTC	ENSP00000354505.2:n.*236_*243delinsTTTGGGTC
ENST00000644079.1:n.3000_3007delinsTTTGGGTC
ENST00000328300.10:c.*236_*243delinsTTTGGGTC	ENSP00000331902.6:n.*236_*243delinsTTTGGGTC
ENST00000361603.6:c.*236_*243delinsTTTGGGTC	ENSP00000354505.2:n.*236_*243delinsTTTGGGTC
ENST00000504541.1:c.537_544delinsTTTGGGTC	ENSP00000424845.1:n.537_544delinsTTTGGGTC
ENST00000515658.1:c.642_649delinsTTTGGGTC
NM_000495.4:c.*236_*243delinsTTTGGGTC	NP_000486.1:n.*236_*243delinsTTTGGGTC
NM_033380.2:c.*236_*243delinsTTTGGGTC	NP_203699.1:n.*236_*243delinsTTTGGGTC
XM_005262070.2:c.*236_*243delinsTTTGGGTC	XP_005262127.1:n.*236_*243delinsTTTGGGTC
XM_006724616.2:c.*236_*243delinsTTTGGGTC	XP_006724679.1:n.*236_*243delinsTTTGGGTC
XM_011530849.1:c.*236_*243delinsTTTGGGTC	XP_011529151.1:n.*236_*243delinsTTTGGGTC
XM_011530851.1:c.*236_*243delinsTTTGGGTC	XP_011529153.1:n.*236_*243delinsTTTGGGTC
XM_011530849.2:c.*236_*243delinsTTTGGGTC	XP_011529151.2:n.*236_*243delinsTTTGGGTC
XM_017029259.2:c.*236_*243delinsTTTGGGTC	XP_016884748.1:n.*236_*243delinsTTTGGGTC
XM_017029260.1:c.*236_*243delinsTTTGGGTC	XP_016884749.1:n.*236_*243delinsTTTGGGTC
XM_017029263.2:c.*236_*243delinsTTTGGGTC	XP_016884752.1:n.*236_*243delinsTTTGGGTC
NM_000495.5:c.*236_*243delinsTTTGGGTC	NP_000486.1:n.*236_*243delinsTTTGGGTC
NM_033380.3:c.*236_*243delinsTTTGGGTC MANE Select	NP_203699.1:n.*236_*243delinsTTTGGGTC