Canonical Allele Identifier: CA860894042

Gene: COL5A1

Linked Data

• dbSNP Id: rs16399
• gnomAD v3: 9-134843386-G-GCTAT
• gnomAD v4: 9-134843386-G-GCTAT
• MyVariant Identifiers: chr9:g.137735232_137735233insCTAT (hg19) ; chr9:g.134843386_134843387insCTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843393_134843396dup , CM000671.2:g.134843393_134843396dup	GRCh38
NC_000009.11:g.137735239_137735242dup , CM000671.1:g.137735239_137735242dup	GRCh37
NC_000009.10:g.136875060_136875063dup	NCBI36
NG_008030.1:g.206588_206591dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1090_*1093dup	ENSP00000360885.4:n.*1090_*1093dup
ENST00000371817.8:c.*1090_*1093dup MANE Select	ENSP00000360882.3:n.*1090_*1093dup
ENST00000371817.7:c.*1090_*1093dup	ENSP00000360882.3:n.*1090_*1093dup
ENST00000618395.4:c.*1090_*1093dup	ENSP00000481360.1:n.*1090_*1093dup
NM_000093.4:c.*1090_*1093dup	NP_000084.3:n.*1090_*1093dup
NM_001278074.1:c.*1090_*1093dup	NP_001265003.1:n.*1090_*1093dup
NR_103451.2:n.71-23181_71-23178dup
NM_000093.5:c.*1090_*1093dup MANE Select	NP_000084.3:n.*1090_*1093dup