Canonical Allele Identifier: CA16612534
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409114
ClinVar RCV Id: RCV002230834
dbSNP Id: rs1060502259

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134818657del , CM000671.2:g.134818657del GRCh38
NC_000009.11:g.137710503del , CM000671.1:g.137710503del GRCh37
NC_000009.10:g.136850324del NCBI36
NG_008030.1:g.181852del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.4232del
ENST00000371817.8:c.4232del
ENST00000371817.7:c.4232del
ENST00000618395.4:c.4232del
NM_000093.4:c.4232del
NM_001278074.1:c.4232del
XR_929712.1:n.4634del
XR_929713.1:n.4634del
XM_017014266.2:c.4232del
XR_001746183.1:n.4630del
NM_000093.5:c.4232del