Canonical Allele Identifier: CA2692461724
Gene: COL5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134842146del , CM000671.2:g.134842146del GRCh38
NC_000009.11:g.137733992del , CM000671.1:g.137733992del GRCh37
NC_000009.10:g.136873813del NCBI36
NG_008030.1:g.205341del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5371-11del ENSP00000360885.4:n.5371-11del
ENST00000371817.8:c.5371-11del MANE Select ENSP00000360882.3:n.5371-11del
ENST00000371817.7:c.5371-11del ENSP00000360882.3:n.5371-11del
ENST00000618395.4:c.5371-11del ENSP00000481360.1:n.5371-11del
NM_000093.4:c.5371-11del NP_000084.3:n.5371-11del
NM_001278074.1:c.5371-11del NP_001265003.1:n.5371-11del
NR_103451.2:n.71-21935del
NM_000093.5:c.5371-11del MANE Select NP_000084.3:n.5371-11del