Canonical Allele Identifier: CA322042

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 213035
• ClinVar RCV Id: RCV000197580 ; RCV002492887
• dbSNP Id: rs863223475
• MyVariant Identifiers: chr9:g.137727037dupT (hg19) ; chr9:g.134835191dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134835191dup , CM000671.2:g.134835191dup	GRCh38
NC_000009.11:g.137727037dup , CM000671.1:g.137727037dup	GRCh37
NC_000009.10:g.136866858dup	NCBI36
NG_008030.1:g.198386dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.5357dup	ENSP00000360885.4:p.Asp1787GlyfsTer?
ENST00000371817.8:c.5357dup MANE Select	ENSP00000360882.3:p.Asp1787GlyfsTer?
ENST00000371817.7:c.5357dup	ENSP00000360882.3:p.Asp1787GlyfsTer?
ENST00000371820.3:c.615dup
ENST00000618395.4:c.5357dup	ENSP00000481360.1:p.Asp1787GlyfsTer?
NM_000093.4:c.5357dup	NP_000084.3:p.Asp1787GlyfsTer?
NM_001278074.1:c.5357dup	NP_001265003.1:p.Asp1787GlyfsTer?
NR_103451.2:n.71-14982dup
NM_000093.5:c.5357dup MANE Select	NP_000084.3:p.Asp1787GlyfsTer?