Canonical Allele Identifier: CA2695219935
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471267_40471291del , CM000677.2:g.40471267_40471291del GRCh38
NC_000015.9:g.40763466_40763490del , CM000677.1:g.40763466_40763490del GRCh37
NC_000015.8:g.38550758_38550782del NCBI36
NG_017074.1:g.5307_5331del , LRG_600:g.5307_5331del

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.54_78del MANE Select ENSP00000307297.6:p.Gly19TrpfsTer19
ENST00000306243.6:c.54_78del ENSP00000307297.5:p.Gly19TrpfsTer19
ENST00000559991.1:c.54_78del ENSP00000453882.1:p.Gly19TrpfsTer19
NM_130468.3:c.54_78del , LRG_600t1:c.54_78del NP_569735.1:p.Gly19TrpfsTer19
NM_130468.4:c.54_78del MANE Select NP_569735.1:p.Gly19TrpfsTer19