Canonical Allele Identifier: CA281064
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17184
ClinVar RCV Id: RCV000018724
dbSNP Id: rs786200923
MyVariant Identifiers: chr9:g.137727053_137727056del (hg19) chr9:g.134835207_134835210del (hg38)
PubMed: PMID:8923000
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835207_134835210del , CM000671.2:g.134835207_134835210del GRCh38
NC_000009.11:g.137727053_137727056del , CM000671.1:g.137727053_137727056del GRCh37
NC_000009.10:g.136866874_136866877del NCBI36
NG_008030.1:g.198402_198405del

Transcript Alleles

HGVS Amino-acid change
ENST00000371820.4:c.5370+3_5370+6del ENSP00000360885.4:n.5370+3_5370+6del
ENST00000371817.8:c.5370+3_5370+6del MANE Select ENSP00000360882.3:n.5370+3_5370+6del
ENST00000371817.7:c.5370+3_5370+6del ENSP00000360882.3:n.5370+3_5370+6del
ENST00000618395.4:c.5370+3_5370+6del ENSP00000481360.1:n.5370+3_5370+6del
NM_000093.4:c.5370+3_5370+6del NP_000084.3:n.5370+3_5370+6del
NM_001278074.1:c.5370+3_5370+6del NP_001265003.1:n.5370+3_5370+6del
NR_103451.2:n.71-14999_71-14996del
NM_000093.5:c.5370+3_5370+6del MANE Select NP_000084.3:n.5370+3_5370+6del
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