Canonical Allele Identifier: CA860894022

Gene: COL5A1

Linked Data

• dbSNP Id: rs1175530082
• gnomAD v3: 9-134843365-CTCTT-C
• gnomAD v4: 9-134843365-CTCTT-C
• MyVariant Identifiers: chr9:g.137735212_137735215del (hg19) ; chr9:g.134843366_134843369del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843366_134843369del , CM000671.2:g.134843366_134843369del	GRCh38
NC_000009.11:g.137735212_137735215del , CM000671.1:g.137735212_137735215del	GRCh37
NC_000009.10:g.136875033_136875036del	NCBI36
NG_008030.1:g.206561_206564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1063_*1066del	ENSP00000360885.4:n.*1063_*1066del
ENST00000371817.8:c.*1063_*1066del MANE Select	ENSP00000360882.3:n.*1063_*1066del
ENST00000371817.7:c.*1063_*1066del	ENSP00000360882.3:n.*1063_*1066del
ENST00000618395.4:c.*1063_*1066del	ENSP00000481360.1:n.*1063_*1066del
NM_000093.4:c.*1063_*1066del	NP_000084.3:n.*1063_*1066del
NM_001278074.1:c.*1063_*1066del	NP_001265003.1:n.*1063_*1066del
NR_103451.2:n.71-23160_71-23157del
NM_000093.5:c.*1063_*1066del MANE Select	NP_000084.3:n.*1063_*1066del