Canonical Allele Identifier: CA201120805

Gene: COL5A1

Linked Data

• dbSNP Id: rs386416421
• MyVariant Identifiers: chr9:g.137735019_137735020insGGGA (hg19) ; chr9:g.134843173_134843174insGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843175_134843176insGAGG , CM000671.2:g.134843175_134843176insGAGG	GRCh38
NC_000009.11:g.137735021_137735022insGAGG , CM000671.1:g.137735021_137735022insGAGG	GRCh37
NC_000009.10:g.136874842_136874843insGAGG	NCBI36
NG_008030.1:g.206370_206371insGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*872_*873insGAGG	ENSP00000360885.4:n.*872_*873insGAGG
ENST00000371817.8:c.*872_*873insGAGG MANE Select	ENSP00000360882.3:n.*872_*873insGAGG
ENST00000371817.7:c.*872_*873insGAGG	ENSP00000360882.3:n.*872_*873insGAGG
ENST00000618395.4:c.*872_*873insGAGG	ENSP00000481360.1:n.*872_*873insGAGG
NM_000093.4:c.*872_*873insGAGG	NP_000084.3:n.*872_*873insGAGG
NM_001278074.1:c.*872_*873insGAGG	NP_001265003.1:n.*872_*873insGAGG
NR_103451.2:n.71-22965_71-22964insTCCC
NM_000093.5:c.*872_*873insGAGG MANE Select	NP_000084.3:n.*872_*873insGAGG