Canonical Allele Identifier: CA1129894577

Gene: COL5A1

Linked Data

• dbSNP Id: rs1830145439
• gnomAD v3: 9-134842860-C-CTTATG
• gnomAD v4: 9-134842860-C-CTTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134842863_134842867dup , CM000671.2:g.134842863_134842867dup	GRCh38
NC_000009.11:g.137734709_137734713dup , CM000671.1:g.137734709_137734713dup	GRCh37
NC_000009.10:g.136874530_136874534dup	NCBI36
NG_008030.1:g.206058_206062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*560_*564dup	ENSP00000360885.4:n.*560_*564dup
ENST00000371817.8:c.*560_*564dup MANE Select	ENSP00000360882.3:n.*560_*564dup
ENST00000371817.7:c.*560_*564dup	ENSP00000360882.3:n.*560_*564dup
ENST00000618395.4:c.*560_*564dup	ENSP00000481360.1:n.*560_*564dup
NM_000093.4:c.*560_*564dup	NP_000084.3:n.*560_*564dup
NM_001278074.1:c.*560_*564dup	NP_001265003.1:n.*560_*564dup
NR_103451.2:n.71-22656_71-22652dup
NM_000093.5:c.*560_*564dup MANE Select	NP_000084.3:n.*560_*564dup