Canonical Allele Identifier: CA16612688
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 409098
ClinVar RCV Id: RCV002230825
dbSNP Id: rs1060502250
MyVariant Identifiers: chr9:g.137726821_137726823del (hg19) chr9:g.134834975_134834977del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134834975_134834977del , CM000671.2:g.134834975_134834977del GRCh38
NC_000009.11:g.137726821_137726823del , CM000671.1:g.137726821_137726823del GRCh37
NC_000009.10:g.136866642_136866644del NCBI36
NG_008030.1:g.198170_198172del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5141_5143del ENSP00000360885.4:p.Ser1714del
ENST00000371817.8:c.5141_5143del MANE Select ENSP00000360882.3:p.Ser1714del
ENST00000371817.7:c.5141_5143del ENSP00000360882.3:p.Ser1714del
ENST00000371820.3:c.399_401del
ENST00000618395.4:c.5141_5143del ENSP00000481360.1:p.Ser1714del
NM_000093.4:c.5141_5143del NP_000084.3:p.Ser1714del
NM_001278074.1:c.5141_5143del NP_001265003.1:p.Ser1714del
NR_103451.2:n.71-14766_71-14764del
XR_929712.1:n.5825_5827del
XR_929713.1:n.5693_5695del
NM_000093.5:c.5141_5143del MANE Select NP_000084.3:p.Ser1714del
Search 100 bp 5'
Search 100 bp 3'