Canonical Allele Identifier: CA916083086

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 838207
• ClinVar RCV Id: RCV002239299
• dbSNP Id: rs1839803841

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835127dup , CM000671.2:g.134835127dup	GRCh38
NC_000009.11:g.137726973dup , CM000671.1:g.137726973dup	GRCh37
NC_000009.10:g.136866794dup	NCBI36
NG_008030.1:g.198322dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5293dup	ENSP00000360885.4:p.Arg1765ProfsTer13
ENST00000371817.8:c.5293dup MANE Select	ENSP00000360882.3:p.Arg1765ProfsTer13
ENST00000371817.7:c.5293dup	ENSP00000360882.3:p.Arg1765ProfsTer13
ENST00000371820.3:c.551dup
ENST00000618395.4:c.5293dup	ENSP00000481360.1:p.Arg1765ProfsTer13
NM_000093.4:c.5293dup	NP_000084.3:p.Arg1765ProfsTer13
NM_001278074.1:c.5293dup	NP_001265003.1:p.Arg1765ProfsTer13
NR_103451.2:n.71-14917dup
NM_000093.5:c.5293dup MANE Select	NP_000084.3:p.Arg1765ProfsTer13