Canonical Allele Identifier: CA517922330
Gene: COL4A5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666519_108666520insG , CM000685.2:g.108666519_108666520insG GRCh38
NC_000023.10:g.107909749_107909750insG , CM000685.1:g.107909749_107909750insG GRCh37
NC_000023.9:g.107796405_107796406insG NCBI36
NG_011977.1:g.231596_231597insG
NG_011977.2:g.231596_231597insG

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3478_3479insG MANE Select ENSP00000331902.7:p.Pro1160ArgfsTer24
ENST00000361603.7:c.3478_3479insG ENSP00000354505.2:p.Pro1160ArgfsTer24
ENST00000328300.10:c.3478_3479insG ENSP00000331902.6:p.Pro1160ArgfsTer24
ENST00000361603.6:c.3478_3479insG ENSP00000354505.2:p.Pro1160ArgfsTer24
NM_000495.4:c.3478_3479insG NP_000486.1:p.Pro1160ArgfsTer24
NM_033380.2:c.3478_3479insG NP_203699.1:p.Pro1160ArgfsTer24
XM_005262070.2:c.3478_3479insG XP_005262127.1:p.Pro1160ArgfsTer24
XM_006724616.2:c.3478_3479insG XP_006724679.1:p.Pro1160ArgfsTer24
XM_011530849.1:c.3154_3155insG XP_011529151.1:p.Pro1052ArgfsTer24
XM_011530850.1:c.3478_3479insG XP_011529152.1:p.Pro1160ArgfsTer24
XM_011530851.1:c.1051_1052insG XP_011529153.1:p.Pro351ArgfsTer24
XM_011530849.2:c.3493_3494insG XP_011529151.2:p.Pro1165ArgfsTer24
XM_017029259.2:c.3493_3494insG XP_016884748.1:p.Pro1165ArgfsTer24
XM_017029260.1:c.3493_3494insG XP_016884749.1:p.Pro1165ArgfsTer24
XM_017029261.1:c.3493_3494insG XP_016884750.1:p.Pro1165ArgfsTer24
XM_017029262.2:c.3493_3494insG XP_016884751.1:p.Pro1165ArgfsTer24
XM_017029263.2:c.1813_1814insG XP_016884752.1:p.Pro605ArgfsTer24
NM_000495.5:c.3478_3479insG NP_000486.1:p.Pro1160ArgfsTer24
NM_033380.3:c.3478_3479insG MANE Select NP_203699.1:p.Pro1160ArgfsTer24