Canonical Allele Identifier: CA860893933
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1370575537

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843210_134843213dup , CM000671.2:g.134843210_134843213dup GRCh38
NC_000009.11:g.137735056_137735059dup , CM000671.1:g.137735056_137735059dup GRCh37
NC_000009.10:g.136874877_136874880dup NCBI36
NG_008030.1:g.206405_206408dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*907_*910dup ENSP00000360885.4:n.*907_*910dup
ENST00000371817.8:c.*907_*910dup MANE Select ENSP00000360882.3:n.*907_*910dup
ENST00000371817.7:c.*907_*910dup ENSP00000360882.3:n.*907_*910dup
ENST00000618395.4:c.*907_*910dup ENSP00000481360.1:n.*907_*910dup
NM_000093.4:c.*907_*910dup NP_000084.3:n.*907_*910dup
NM_001278074.1:c.*907_*910dup NP_001265003.1:n.*907_*910dup
NR_103451.2:n.71-23003_71-23000dup
NM_000093.5:c.*907_*910dup MANE Select NP_000084.3:n.*907_*910dup