Canonical Allele Identifier: CA2695219936
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471298_40471308del , CM000677.2:g.40471298_40471308del GRCh38
NC_000015.9:g.40763497_40763507del , CM000677.1:g.40763497_40763507del GRCh37
NC_000015.8:g.38550789_38550799del NCBI36
NG_017074.1:g.5338_5348del , LRG_600:g.5338_5348del

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.85_95del MANE Select ENSP00000307297.6:p.Arg29GlyfsTer?
ENST00000306243.6:c.85_95del ENSP00000307297.5:p.Arg29GlyfsTer?
ENST00000559991.1:c.85_95del ENSP00000453882.1:p.Arg29GlyfsTer?
NM_130468.3:c.85_95del , LRG_600t1:c.85_95del NP_569735.1:p.Arg29GlyfsTer?
NM_130468.4:c.85_95del MANE Select NP_569735.1:p.Arg29GlyfsTer?