Canonical Allele Identifier: CA658657943
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 459671
ClinVar RCV Id: RCV002231292
dbSNP Id: rs1554803622

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134805162dup , CM000671.2:g.134805162dup GRCh38
NC_000009.11:g.137697008dup , CM000671.1:g.137697008dup GRCh37
NC_000009.10:g.136836829dup NCBI36
NG_008030.1:g.168357dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.3206dup
ENST00000371817.8:c.3206dup
ENST00000371817.7:c.3206dup
ENST00000618395.4:c.3206dup
NM_000093.4:c.3206dup
NM_001278074.1:c.3206dup
XR_929712.1:n.3608dup
XR_929713.1:n.3608dup
XM_017014266.2:c.3206dup
XR_001746183.1:n.3604dup
NM_000093.5:c.3206dup