Canonical Allele Identifier: CA2519745239
Gene: COL5A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843170dup , CM000671.2:g.134843170dup GRCh38
NC_000009.11:g.137735016dup , CM000671.1:g.137735016dup GRCh37
NC_000009.10:g.136874837dup NCBI36
NG_008030.1:g.206365dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*867dup ENSP00000360885.4:n.*867dup
ENST00000371817.8:c.*867dup MANE Select ENSP00000360882.3:n.*867dup
ENST00000371817.7:c.*867dup ENSP00000360882.3:n.*867dup
ENST00000618395.4:c.*867dup ENSP00000481360.1:n.*867dup
NM_000093.4:c.*867dup NP_000084.3:n.*867dup
NM_001278074.1:c.*867dup NP_001265003.1:n.*867dup
NR_103451.2:n.71-22960dup
NM_000093.5:c.*867dup MANE Select NP_000084.3:n.*867dup