Canonical Allele Identifier: CA1129894922
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843173_134843180del , CM000671.2:g.134843173_134843180del GRCh38
NC_000009.11:g.137735019_137735026del , CM000671.1:g.137735019_137735026del GRCh37
NC_000009.10:g.136874840_136874847del NCBI36
NG_008030.1:g.206368_206375del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*870_*877del ENSP00000360885.4:n.*870_*877del
ENST00000371817.8:c.*870_*877del MANE Select ENSP00000360882.3:n.*870_*877del
ENST00000371817.7:c.*870_*877del ENSP00000360882.3:n.*870_*877del
ENST00000618395.4:c.*870_*877del ENSP00000481360.1:n.*870_*877del
NM_000093.4:c.*870_*877del NP_000084.3:n.*870_*877del
NM_001278074.1:c.*870_*877del NP_001265003.1:n.*870_*877del
NR_103451.2:n.71-22970_71-22963del
NM_000093.5:c.*870_*877del MANE Select NP_000084.3:n.*870_*877del