Canonical Allele Identifier: CA2692462697

Gene: COL5A1

Linked Data

• gnomAD v4: 9-134843393-ATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843395_134843396del , CM000671.2:g.134843395_134843396del	GRCh38
NC_000009.11:g.137735241_137735242del , CM000671.1:g.137735241_137735242del	GRCh37
NC_000009.10:g.136875062_136875063del	NCBI36
NG_008030.1:g.206590_206591del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1092_*1093del	ENSP00000360885.4:n.*1092_*1093del
ENST00000371817.8:c.*1092_*1093del MANE Select	ENSP00000360882.3:n.*1092_*1093del
ENST00000371817.7:c.*1092_*1093del	ENSP00000360882.3:n.*1092_*1093del
ENST00000618395.4:c.*1092_*1093del	ENSP00000481360.1:n.*1092_*1093del
NM_000093.4:c.*1092_*1093del	NP_000084.3:n.*1092_*1093del
NM_001278074.1:c.*1092_*1093del	NP_001265003.1:n.*1092_*1093del
NR_103451.2:n.71-23186_71-23185del
NM_000093.5:c.*1092_*1093del MANE Select	NP_000084.3:n.*1092_*1093del