Canonical Allele Identifier: CA2838495208
Gene: COL5A3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.9993654dup , CM000681.2:g.9993654dup GRCh38
NC_000019.9:g.10104330dup , CM000681.1:g.10104330dup GRCh37
NC_000019.8:g.9965330dup NCBI36
NG_046943.1:g.21886dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264828.4:c.1661dup MANE Select ENSP00000264828.3:p.Leu555ProfsTer7
ENST00000264828.3:c.1661dup ENSP00000264828.3:p.Leu555ProfsTer7
NM_015719.3:c.1661dup NP_056534.2:p.Leu555ProfsTer7
XM_011528042.1:c.1658dup XP_011526344.1:p.Leu554ProfsTer7
XM_011528042.2:c.1658dup XP_011526344.1:p.Leu554ProfsTer7
NM_015719.4:c.1661dup MANE Select NP_056534.2:p.Leu555ProfsTer7
Search 100 bp 5'
Search 100 bp 3'