Canonical Allele Identifier: CA915951310

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 829907
• ClinVar RCV Id: RCV001029854
• dbSNP Id: rs1603318154

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681869_108681872delinsGGG , CM000685.2:g.108681869_108681872delinsGGG	GRCh38
NC_000023.10:g.107925099_107925102delinsGGG , CM000685.1:g.107925099_107925102delinsGGG	GRCh37
NC_000023.9:g.107811755_107811758delinsGGG	NCBI36
NG_011977.1:g.246946_246949delinsGGG
NG_011977.2:g.246946_246949delinsGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4197_4200delinsGGG MANE Select	ENSP00000331902.7:p.Pro1401LeufsTer?
ENST00000361603.7:c.4179_4182delinsGGG	ENSP00000354505.2:p.Pro1395LeufsTer?
ENST00000510690.2:n.691_694delinsGGG
ENST00000328300.10:c.4197_4200delinsGGG	ENSP00000331902.6:p.Pro1401LeufsTer?
ENST00000361603.6:c.4179_4182delinsGGG	ENSP00000354505.2:p.Pro1395LeufsTer?
ENST00000489230.1:n.600_603delinsGGG
NM_000495.4:c.4179_4182delinsGGG	NP_000486.1:p.Pro1395LeufsTer?
NM_033380.2:c.4197_4200delinsGGG	NP_203699.1:p.Pro1401LeufsTer?
XM_005262070.2:c.4188_4191delinsGGG	XP_005262127.1:p.Pro1398LeufsTer?
XM_006724616.2:c.4197_4200delinsGGG	XP_006724679.1:p.Pro1401LeufsTer?
XM_011530849.1:c.3873_3876delinsGGG	XP_011529151.1:p.Pro1293LeufsTer?
XM_011530851.1:c.1770_1773delinsGGG	XP_011529153.1:p.Pro592LeufsTer?
XM_011530849.2:c.4212_4215delinsGGG	XP_011529151.2:p.Pro1406LeufsTer?
XM_017029259.2:c.4203_4206delinsGGG	XP_016884748.1:p.Pro1403LeufsTer?
XM_017029260.1:c.4194_4197delinsGGG	XP_016884749.1:p.Pro1400LeufsTer?
XM_017029263.2:c.2532_2535delinsGGG	XP_016884752.1:p.Pro846LeufsTer?
NM_000495.5:c.4179_4182delinsGGG	NP_000486.1:p.Pro1395LeufsTer?
NM_033380.3:c.4197_4200delinsGGG MANE Select	NP_203699.1:p.Pro1401LeufsTer?