Canonical Allele Identifier: CA591117548
Gene: COL5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1564192151
gnomAD v2: 9-137734871-C-CT
gnomAD v3: 9-134843025-C-CT
gnomAD v4: 9-134843025-C-CT
MyVariant Identifiers: chr9:g.137734871_137734872insT (hg19) chr9:g.134843025_134843026insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134843026dup , CM000671.2:g.134843026dup GRCh38
NC_000009.11:g.137734872dup , CM000671.1:g.137734872dup GRCh37
NC_000009.10:g.136874693dup NCBI36
NG_008030.1:g.206221dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.*723dup ENSP00000360885.4:n.*723dup
ENST00000371817.8:c.*723dup MANE Select ENSP00000360882.3:n.*723dup
ENST00000371817.7:c.*723dup ENSP00000360882.3:n.*723dup
ENST00000618395.4:c.*723dup ENSP00000481360.1:n.*723dup
NM_000093.4:c.*723dup NP_000084.3:n.*723dup
NM_001278074.1:c.*723dup NP_001265003.1:n.*723dup
NR_103451.2:n.71-22817dup
NM_000093.5:c.*723dup MANE Select NP_000084.3:n.*723dup
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