Canonical Allele Identifier: CA2573144114
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1402270
ClinVar RCV Id: RCV001906353
dbSNP Id: rs2132683277
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134750850del , CM000671.2:g.134750850del GRCh38
NC_000009.11:g.137642696del , CM000671.1:g.137642696del GRCh37
NC_000009.10:g.136782517del NCBI36
NG_008030.1:g.114045del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.1630del ENSP00000360885.4:p.Ser544ProfsTer14
ENST00000371817.8:c.1630del MANE Select ENSP00000360882.3:p.Ser544ProfsTer14
ENST00000371817.7:c.1630del ENSP00000360882.3:p.Ser544ProfsTer14
ENST00000618395.4:c.1630del ENSP00000481360.1:p.Ser544ProfsTer14
NM_000093.4:c.1630del NP_000084.3:p.Ser544ProfsTer14
NM_001278074.1:c.1630del NP_001265003.1:p.Ser544ProfsTer14
XR_929712.1:n.2032del
XR_929713.1:n.2032del
XM_017014266.2:c.1630del XP_016869755.1:p.Ser544ProfsTer14
XR_001746183.1:n.2028del
NM_000093.5:c.1630del MANE Select NP_000084.3:p.Ser544ProfsTer14
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