Canonical Allele Identifier: CA2692445994

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134822218-T-TCCTGGGCCCCCTGGCCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134822219_134822220insCTGGGCCCCCTGGCCTGCC , CM000671.2:g.134822219_134822220insCTGGGCCCCCTGGCCTGCC	GRCh38
NC_000009.11:g.137714065_137714066insCTGGGCCCCCTGGCCTGCC , CM000671.1:g.137714065_137714066insCTGGGCCCCCTGGCCTGCC	GRCh37
NC_000009.10:g.136853886_136853887insCTGGGCCCCCTGGCCTGCC	NCBI36
NG_008030.1:g.185414_185415insCTGGGCCCCCTGGCCTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	ENSP00000360885.4:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
ENST00000371817.8:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC MANE Select	ENSP00000360882.3:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
ENST00000371817.7:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	ENSP00000360882.3:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
ENST00000618395.4:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	ENSP00000481360.1:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
NM_000093.4:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	NP_000084.3:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
NM_001278074.1:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	NP_001265003.1:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
NR_103451.2:n.71-2010_71-2009insGCAGGCCAGGGGGCCCAGG
XR_929712.1:n.5010+69_5010+70insCTGGGCCCCCTGGCCTGCC
XR_929713.1:n.5010+69_5010+70insCTGGGCCCCCTGGCCTGCC
XM_017014266.2:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC	XP_016869755.1:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC
XR_001746183.1:n.5006+69_5006+70insCTGGGCCCCCTGGCCTGCC
NM_000093.5:c.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC MANE Select	NP_000084.3:n.4608+69_4608+70insCTGGGCCCCCTGGCCTGCC