Canonical Allele Identifier: CA2695211562

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 2814128
• ClinVar RCV Id: RCV003760863

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822141del , CM000671.2:g.134822141del	GRCh38
NC_000009.11:g.137713987del , CM000671.1:g.137713987del	GRCh37
NC_000009.10:g.136853808del	NCBI36
NG_008030.1:g.185336del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4599del	ENSP00000360885.4:p.Gly1534AlafsTer?
ENST00000371817.8:c.4599del MANE Select	ENSP00000360882.3:p.Gly1534AlafsTer?
ENST00000371817.7:c.4599del	ENSP00000360882.3:p.Gly1534AlafsTer?
ENST00000618395.4:c.4599del	ENSP00000481360.1:p.Gly1534AlafsTer?
NM_000093.4:c.4599del	NP_000084.3:p.Gly1534AlafsTer?
NM_001278074.1:c.4599del	NP_001265003.1:p.Gly1534AlafsTer?
NR_103451.2:n.71-1932del
XR_929712.1:n.5001del
XR_929713.1:n.5001del
XM_017014266.2:c.4599del	XP_016869755.1:p.Gly1534AlafsTer?
XR_001746183.1:n.4997del
NM_000093.5:c.4599del MANE Select	NP_000084.3:p.Gly1534AlafsTer?