Canonical Allele Identifier: CA1129895134

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830160093
• gnomAD v3: 9-134843465-C-CTGT
• gnomAD v4: 9-134843465-C-CTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843467_134843469dup , CM000671.2:g.134843467_134843469dup	GRCh38
NC_000009.11:g.137735313_137735315dup , CM000671.1:g.137735313_137735315dup	GRCh37
NC_000009.10:g.136875134_136875136dup	NCBI36
NG_008030.1:g.206662_206664dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1164_*1166dup	ENSP00000360885.4:n.*1164_*1166dup
ENST00000371817.8:c.*1164_*1166dup MANE Select	ENSP00000360882.3:n.*1164_*1166dup
ENST00000371817.7:c.*1164_*1166dup	ENSP00000360882.3:n.*1164_*1166dup
ENST00000618395.4:c.*1164_*1166dup	ENSP00000481360.1:n.*1164_*1166dup
NM_000093.4:c.*1164_*1166dup	NP_000084.3:n.*1164_*1166dup
NM_001278074.1:c.*1164_*1166dup	NP_001265003.1:n.*1164_*1166dup
NR_103451.2:n.71-23259_71-23257dup
NM_000093.5:c.*1164_*1166dup MANE Select	NP_000084.3:n.*1164_*1166dup