Canonical Allele Identifier: CA591117589

Gene: COL5A1

Linked Data

• dbSNP Id: rs1250536182
• gnomAD v2: 9-137735219-GCTCTCT-G
• gnomAD v3: 9-134843373-GCTCTCT-G
• gnomAD v4: 9-134843373-GCTCTCT-G
• MyVariant Identifiers: chr9:g.137735220_137735225del (hg19) ; chr9:g.134843374_134843379del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.134843374_134843379del , CM000671.2:g.134843374_134843379del	GRCh38
NC_000009.11:g.137735220_137735225del , CM000671.1:g.137735220_137735225del	GRCh37
NC_000009.10:g.136875041_136875046del	NCBI36
NG_008030.1:g.206569_206574del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371820.4:c.*1071_*1076del	ENSP00000360885.4:n.*1071_*1076del
ENST00000371817.8:c.*1071_*1076del MANE Select	ENSP00000360882.3:n.*1071_*1076del
ENST00000371817.7:c.*1071_*1076del	ENSP00000360882.3:n.*1071_*1076del
ENST00000618395.4:c.*1071_*1076del	ENSP00000481360.1:n.*1071_*1076del
NM_000093.4:c.*1071_*1076del	NP_000084.3:n.*1071_*1076del
NM_001278074.1:c.*1071_*1076del	NP_001265003.1:n.*1071_*1076del
NR_103451.2:n.71-23170_71-23165del
NM_000093.5:c.*1071_*1076del MANE Select	NP_000084.3:n.*1071_*1076del