Canonical Allele Identifier: CA2692462666

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134843327-T-TAACTC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843330_134843334dup , CM000671.2:g.134843330_134843334dup	GRCh38
NC_000009.11:g.137735176_137735180dup , CM000671.1:g.137735176_137735180dup	GRCh37
NC_000009.10:g.136874997_136875001dup	NCBI36
NG_008030.1:g.206525_206529dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1027_*1031dup	ENSP00000360885.4:n.*1027_*1031dup
ENST00000371817.8:c.*1027_*1031dup MANE Select	ENSP00000360882.3:n.*1027_*1031dup
ENST00000371817.7:c.*1027_*1031dup	ENSP00000360882.3:n.*1027_*1031dup
ENST00000618395.4:c.*1027_*1031dup	ENSP00000481360.1:n.*1027_*1031dup
NM_000093.4:c.*1027_*1031dup	NP_000084.3:n.*1027_*1031dup
NM_001278074.1:c.*1027_*1031dup	NP_001265003.1:n.*1027_*1031dup
NR_103451.2:n.71-23123_71-23119dup
NM_000093.5:c.*1027_*1031dup MANE Select	NP_000084.3:n.*1027_*1031dup