Canonical Allele Identifier: CA2842450441
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842289dup , CM000671.2:g.134842289dup GRCh38
NC_000009.11:g.137734135dup , CM000671.1:g.137734135dup GRCh37
NC_000009.10:g.136873956dup NCBI36
NG_008030.1:g.205484dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5503dup ENSP00000360885.4:p.Cys1835LeufsTer18
ENST00000371817.8:c.5503dup MANE Select ENSP00000360882.3:p.Cys1835LeufsTer18
ENST00000371817.7:c.5503dup ENSP00000360882.3:p.Cys1835LeufsTer18
ENST00000618395.4:c.5503dup ENSP00000481360.1:p.Cys1835LeufsTer18
NM_000093.4:c.5503dup NP_000084.3:p.Cys1835LeufsTer18
NM_001278074.1:c.5503dup NP_001265003.1:p.Cys1835LeufsTer18
NR_103451.2:n.71-22079dup
NM_000093.5:c.5503dup MANE Select NP_000084.3:p.Cys1835LeufsTer18