Canonical Allele Identifier: CA334052594
Gene: COL4A5 HGNC NCBI

Linked Data

dbSNP Id: rs104886398

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108677560_108677561insAACC , CM000685.2:g.108677560_108677561insAACC GRCh38
NC_000023.10:g.107920790_107920791insAACC , CM000685.1:g.107920790_107920791insAACC GRCh37
NC_000023.9:g.107807446_107807447insAACC NCBI36
NG_011977.1:g.242637_242638insAACC
NG_011977.2:g.242637_242638insAACC

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3869_3870insAACC MANE Select ENSP00000331902.7:p.Gly1291ThrfsTer27
ENST00000361603.7:c.3851_3852insAACC ENSP00000354505.2:p.Gly1285ThrfsTer27
ENST00000510690.2:n.363_364insAACC
ENST00000328300.10:c.3869_3870insAACC ENSP00000331902.6:p.Gly1291ThrfsTer27
ENST00000361603.6:c.3851_3852insAACC ENSP00000354505.2:p.Gly1285ThrfsTer27
ENST00000489230.1:n.272_273insAACC
ENST00000510690.1:n.363_364insAACC
NM_000495.4:c.3851_3852insAACC NP_000486.1:p.Gly1285ThrfsTer27
NM_033380.2:c.3869_3870insAACC NP_203699.1:p.Gly1291ThrfsTer27
XM_005262070.2:c.3860_3861insAACC XP_005262127.1:p.Gly1288ThrfsTer27
XM_006724616.2:c.3869_3870insAACC XP_006724679.1:p.Gly1291ThrfsTer27
XM_011530849.1:c.3545_3546insAACC XP_011529151.1:p.Gly1183ThrfsTer27
XM_011530851.1:c.1442_1443insAACC XP_011529153.1:p.Gly482ThrfsTer27
XM_011530849.2:c.3884_3885insAACC XP_011529151.2:p.Gly1296ThrfsTer27
XM_017029259.2:c.3875_3876insAACC XP_016884748.1:p.Gly1293ThrfsTer27
XM_017029260.1:c.3866_3867insAACC XP_016884749.1:p.Gly1290ThrfsTer27
XM_017029261.1:c.3884_3885insAACC XP_016884750.1:p.Gly1296ThrfsTer28
XM_017029263.2:c.2204_2205insAACC XP_016884752.1:p.Gly736ThrfsTer27
NM_000495.5:c.3851_3852insAACC NP_000486.1:p.Gly1285ThrfsTer27
NM_033380.3:c.3869_3870insAACC MANE Select NP_203699.1:p.Gly1291ThrfsTer27