Canonical Allele Identifier: CA10654931
Gene: COL4A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 369940
ClinVar RCV Id: RCV000408880
dbSNP Id: rs1057516187

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.108666528_108666529delinsG , CM000685.2:g.108666528_108666529delinsG GRCh38
NC_000023.10:g.107909758_107909759delinsG , CM000685.1:g.107909758_107909759delinsG GRCh37
NC_000023.9:g.107796414_107796415delinsG NCBI36
NG_011977.1:g.231605_231606delinsG
NG_011977.2:g.231605_231606delinsG

Transcript Alleles

HGVS Amino-acid change
ENST00000328300.11:c.3487_3488delinsG MANE Select ENSP00000331902.7:p.Pro1163GlufsTer?
ENST00000361603.7:c.3487_3488delinsG ENSP00000354505.2:p.Pro1163GlufsTer?
ENST00000328300.10:c.3487_3488delinsG ENSP00000331902.6:p.Pro1163GlufsTer?
ENST00000361603.6:c.3487_3488delinsG ENSP00000354505.2:p.Pro1163GlufsTer?
NM_000495.4:c.3487_3488delinsG NP_000486.1:p.Pro1163GlufsTer?
NM_033380.2:c.3487_3488delinsG NP_203699.1:p.Pro1163GlufsTer?
XM_005262070.2:c.3487_3488delinsG XP_005262127.1:p.Pro1163GlufsTer?
XM_006724616.2:c.3487_3488delinsG XP_006724679.1:p.Pro1163GlufsTer?
XM_011530849.1:c.3163_3164delinsG XP_011529151.1:p.Pro1055GlufsTer?
XM_011530850.1:c.3487_3488delinsG XP_011529152.1:p.Pro1163GlufsTer?
XM_011530851.1:c.1060_1061delinsG XP_011529153.1:p.Pro354GlufsTer?
XM_011530849.2:c.3502_3503delinsG XP_011529151.2:p.Pro1168GlufsTer?
XM_017029259.2:c.3502_3503delinsG XP_016884748.1:p.Pro1168GlufsTer?
XM_017029260.1:c.3502_3503delinsG XP_016884749.1:p.Pro1168GlufsTer?
XM_017029261.1:c.3502_3503delinsG XP_016884750.1:p.Pro1168GlufsTer?
XM_017029262.2:c.3502_3503delinsG XP_016884751.1:p.Pro1168GlufsTer?
XM_017029263.2:c.1822_1823delinsG XP_016884752.1:p.Pro608GlufsTer?
NM_000495.5:c.3487_3488delinsG NP_000486.1:p.Pro1163GlufsTer?
NM_033380.3:c.3487_3488delinsG MANE Select NP_203699.1:p.Pro1163GlufsTer?