Canonical Allele Identifier: CA1883397439

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830151407
• gnomAD v3: 9-134843116-C-CT
• gnomAD v4: 9-134843116-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843116_134843117insT , CM000671.2:g.134843116_134843117insT	GRCh38
NC_000009.11:g.137734962_137734963insT , CM000671.1:g.137734962_137734963insT	GRCh37
NC_000009.10:g.136874783_136874784insT	NCBI36
NG_008030.1:g.206311_206312insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*813_*814insT	ENSP00000360885.4:n.*813_*814insT
ENST00000371817.8:c.*813_*814insT MANE Select	ENSP00000360882.3:n.*813_*814insT
ENST00000371817.7:c.*813_*814insT	ENSP00000360882.3:n.*813_*814insT
ENST00000618395.4:c.*813_*814insT	ENSP00000481360.1:n.*813_*814insT
NM_000093.4:c.*813_*814insT	NP_000084.3:n.*813_*814insT
NM_001278074.1:c.*813_*814insT	NP_001265003.1:n.*813_*814insT
NR_103451.2:n.71-22908_71-22907insA
NM_000093.5:c.*813_*814insT MANE Select	NP_000084.3:n.*813_*814insT