Canonical Allele Identifier: CA860893799
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1225698727

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843118_134843123dup , CM000671.2:g.134843118_134843123dup GRCh38
NC_000009.11:g.137734964_137734969dup , CM000671.1:g.137734964_137734969dup GRCh37
NC_000009.10:g.136874785_136874790dup NCBI36
NG_008030.1:g.206313_206318dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*815_*820dup ENSP00000360885.4:n.*815_*820dup
ENST00000371817.8:c.*815_*820dup MANE Select ENSP00000360882.3:n.*815_*820dup
ENST00000371817.7:c.*815_*820dup ENSP00000360882.3:n.*815_*820dup
ENST00000618395.4:c.*815_*820dup ENSP00000481360.1:n.*815_*820dup
NM_000093.4:c.*815_*820dup NP_000084.3:n.*815_*820dup
NM_001278074.1:c.*815_*820dup NP_001265003.1:n.*815_*820dup
NR_103451.2:n.71-22912_71-22907dup
NM_000093.5:c.*815_*820dup MANE Select NP_000084.3:n.*815_*820dup