Canonical Allele Identifier: CA2573144157
Gene: COL5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390234
ClinVar RCV Id: RCV001890898
dbSNP Id: rs2132926191
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835176_134835177insTGACAA , CM000671.2:g.134835176_134835177insTGACAA GRCh38
NC_000009.11:g.137727022_137727023insTGACAA , CM000671.1:g.137727022_137727023insTGACAA GRCh37
NC_000009.10:g.136866843_136866844insTGACAA NCBI36
NG_008030.1:g.198371_198372insTGACAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5342_5343insTGACAA ENSP00000360885.4:p.Tyr1781_Ile1782insAspAsn
ENST00000371817.8:c.5342_5343insTGACAA MANE Select ENSP00000360882.3:p.Tyr1781_Ile1782insAspAsn
ENST00000371817.7:c.5342_5343insTGACAA ENSP00000360882.3:p.Tyr1781_Ile1782insAspAsn
ENST00000371820.3:c.600_601insTGACAA
ENST00000618395.4:c.5342_5343insTGACAA ENSP00000481360.1:p.Tyr1781_Ile1782insAspAsn
NM_000093.4:c.5342_5343insTGACAA NP_000084.3:p.Tyr1781_Ile1782insAspAsn
NM_001278074.1:c.5342_5343insTGACAA NP_001265003.1:p.Tyr1781_Ile1782insAspAsn
NR_103451.2:n.71-14967_71-14966insTGTCAT
NM_000093.5:c.5342_5343insTGACAA MANE Select NP_000084.3:p.Tyr1781_Ile1782insAspAsn
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