Canonical Allele Identifier: CA2575679820
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471293del , CM000677.2:g.40471293del GRCh38
NC_000015.9:g.40763492del , CM000677.1:g.40763492del GRCh37
NC_000015.8:g.38550784del NCBI36
NG_017074.1:g.5333del , LRG_600:g.5333del

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.80del MANE Select ENSP00000307297.6:p.Leu27ArgfsTer19
ENST00000306243.6:c.80del ENSP00000307297.5:p.Leu27ArgfsTer19
ENST00000559991.1:c.80del ENSP00000453882.1:p.Leu27ArgfsTer19
NM_130468.3:c.80del , LRG_600t1:c.80del NP_569735.1:p.Leu27ArgfsTer19
NM_130468.4:c.80del MANE Select NP_569735.1:p.Leu27ArgfsTer19