Canonical Allele Identifier: CA2838621510
Gene: COL5A1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.134835107dup , CM000671.2:g.134835107dup GRCh38
NC_000009.11:g.137726953dup , CM000671.1:g.137726953dup GRCh37
NC_000009.10:g.136866774dup NCBI36
NG_008030.1:g.198302dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000371820.4:c.5273dup ENSP00000360885.4:p.Ser1759GlnfsTer19
ENST00000371817.8:c.5273dup MANE Select ENSP00000360882.3:p.Ser1759GlnfsTer19
ENST00000371817.7:c.5273dup ENSP00000360882.3:p.Ser1759GlnfsTer19
ENST00000371820.3:c.531dup
ENST00000618395.4:c.5273dup ENSP00000481360.1:p.Ser1759GlnfsTer19
NM_000093.4:c.5273dup NP_000084.3:p.Ser1759GlnfsTer19
NM_001278074.1:c.5273dup NP_001265003.1:p.Ser1759GlnfsTer19
NR_103451.2:n.71-14896dup
NM_000093.5:c.5273dup MANE Select NP_000084.3:p.Ser1759GlnfsTer19
Search 100 bp 5'
Search 100 bp 3'