Canonical Allele Identifier: CA2692462635

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134843156-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843156_134843157insA , CM000671.2:g.134843156_134843157insA	GRCh38
NC_000009.11:g.137735002_137735003insA , CM000671.1:g.137735002_137735003insA	GRCh37
NC_000009.10:g.136874823_136874824insA	NCBI36
NG_008030.1:g.206351_206352insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*853_*854insA	ENSP00000360885.4:n.*853_*854insA
ENST00000371817.8:c.*853_*854insA MANE Select	ENSP00000360882.3:n.*853_*854insA
ENST00000371817.7:c.*853_*854insA	ENSP00000360882.3:n.*853_*854insA
ENST00000618395.4:c.*853_*854insA	ENSP00000481360.1:n.*853_*854insA
NM_000093.4:c.*853_*854insA	NP_000084.3:n.*853_*854insA
NM_001278074.1:c.*853_*854insA	NP_001265003.1:n.*853_*854insA
NR_103451.2:n.71-22948_71-22947insT
NM_000093.5:c.*853_*854insA MANE Select	NP_000084.3:n.*853_*854insA