Canonical Allele Identifier: CA201120915
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1048885482

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843389_134843393dup , CM000671.2:g.134843389_134843393dup GRCh38
NC_000009.11:g.137735235_137735239dup , CM000671.1:g.137735235_137735239dup GRCh37
NC_000009.10:g.136875056_136875060dup NCBI36
NG_008030.1:g.206584_206588dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*1086_*1090dup ENSP00000360885.4:n.*1086_*1090dup
ENST00000371817.8:c.*1086_*1090dup MANE Select ENSP00000360882.3:n.*1086_*1090dup
ENST00000371817.7:c.*1086_*1090dup ENSP00000360882.3:n.*1086_*1090dup
ENST00000618395.4:c.*1086_*1090dup ENSP00000481360.1:n.*1086_*1090dup
NM_000093.4:c.*1086_*1090dup NP_000084.3:n.*1086_*1090dup
NM_001278074.1:c.*1086_*1090dup NP_001265003.1:n.*1086_*1090dup
NR_103451.2:n.71-23184_71-23180dup
NM_000093.5:c.*1086_*1090dup MANE Select NP_000084.3:n.*1086_*1090dup