Canonical Allele Identifier: CA10629523

Gene: COL5A1

Linked Data

• ClinVar Variation Id: 365767
• ClinVar RCV Id: RCV000332339
• dbSNP Id: rs886063686
• MyVariant Identifiers: chr9:g.137735196_137735198dupATT (hg19) ; chr9:g.134843350_134843352dupATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843350_134843352dup , CM000671.2:g.134843350_134843352dup	GRCh38
NC_000009.11:g.137735196_137735198dup , CM000671.1:g.137735196_137735198dup	GRCh37
NC_000009.10:g.136875017_136875019dup	NCBI36
NG_008030.1:g.206545_206547dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1047_*1049dup	ENSP00000360885.4:n.*1047_*1049dup
ENST00000371817.8:c.*1047_*1049dup MANE Select	ENSP00000360882.3:n.*1047_*1049dup
ENST00000371817.7:c.*1047_*1049dup	ENSP00000360882.3:n.*1047_*1049dup
ENST00000618395.4:c.*1047_*1049dup	ENSP00000481360.1:n.*1047_*1049dup
NM_000093.4:c.*1047_*1049dup	NP_000084.3:n.*1047_*1049dup
NM_001278074.1:c.*1047_*1049dup	NP_001265003.1:n.*1047_*1049dup
NR_103451.2:n.71-23141_71-23139dup
NM_000093.5:c.*1047_*1049dup MANE Select	NP_000084.3:n.*1047_*1049dup