Canonical Allele Identifier: CA1883397452
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1830151814
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843133_134843136del , CM000671.2:g.134843133_134843136del GRCh38
NC_000009.11:g.137734979_137734982del , CM000671.1:g.137734979_137734982del GRCh37
NC_000009.10:g.136874800_136874803del NCBI36
NG_008030.1:g.206328_206331del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.*830_*833del ENSP00000360885.4:n.*830_*833del
ENST00000371817.8:c.*830_*833del MANE Select ENSP00000360882.3:n.*830_*833del
ENST00000371817.7:c.*830_*833del ENSP00000360882.3:n.*830_*833del
ENST00000618395.4:c.*830_*833del ENSP00000481360.1:n.*830_*833del
NM_000093.4:c.*830_*833del NP_000084.3:n.*830_*833del
NM_001278074.1:c.*830_*833del NP_001265003.1:n.*830_*833del
NR_103451.2:n.71-22924_71-22921del
NM_000093.5:c.*830_*833del MANE Select NP_000084.3:n.*830_*833del
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