Canonical Allele Identifier: CA2580080035

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2131799
• ClinVar RCV Id: RCV003052536

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134750831dup , CM000671.2:g.134750831dup	GRCh38
NC_000009.11:g.137642677dup , CM000671.1:g.137642677dup	GRCh37
NC_000009.10:g.136782498dup	NCBI36
NG_008030.1:g.114026dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.1611dup	ENSP00000360885.4:p.Met538HisfsTer?
ENST00000371817.8:c.1611dup MANE Select	ENSP00000360882.3:p.Met538HisfsTer?
ENST00000371817.7:c.1611dup	ENSP00000360882.3:p.Met538HisfsTer?
ENST00000618395.4:c.1611dup	ENSP00000481360.1:p.Met538HisfsTer?
NM_000093.4:c.1611dup	NP_000084.3:p.Met538HisfsTer?
NM_001278074.1:c.1611dup	NP_001265003.1:p.Met538HisfsTer?
XR_929712.1:n.2013dup
XR_929713.1:n.2013dup
XM_017014266.2:c.1611dup	XP_016869755.1:p.Met538HisfsTer?
XR_001746183.1:n.2009dup
NM_000093.5:c.1611dup MANE Select	NP_000084.3:p.Met538HisfsTer?