Canonical Allele Identifier: CA1139661326
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 966713
ClinVar RCV Id: RCV002564002
dbSNP Id: rs1834879370
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134731525_134731527delinsG , CM000671.2:g.134731525_134731527delinsG GRCh38
NC_000009.11:g.137623371_137623373delinsG , CM000671.1:g.137623371_137623373delinsG GRCh37
NC_000009.10:g.136763192_136763194delinsG NCBI36
NG_008030.1:g.94720_94722delinsG

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1194_1196delinsG ENSP00000360885.4:p.Asp398GlufsTer8
ENST00000371817.8:c.1194_1196delinsG MANE Select ENSP00000360882.3:p.Asp398GlufsTer8
ENST00000371817.7:c.1194_1196delinsG ENSP00000360882.3:p.Asp398GlufsTer8
ENST00000618395.4:c.1194_1196delinsG ENSP00000481360.1:p.Asp398GlufsTer8
NM_000093.4:c.1194_1196delinsG NP_000084.3:p.Asp398GlufsTer8
NM_001278074.1:c.1194_1196delinsG NP_001265003.1:p.Asp398GlufsTer8
XR_929712.1:n.1596_1598delinsG
XR_929713.1:n.1596_1598delinsG
XM_017014266.2:c.1194_1196delinsG XP_016869755.1:p.Asp398GlufsTer8
XR_001746183.1:n.1592_1594delinsG
NM_000093.5:c.1194_1196delinsG MANE Select NP_000084.3:p.Asp398GlufsTer8
Search 100 bp 5'
Search 100 bp 3'