Canonical Allele Identifier: CA2575679821
Gene: CHST14 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471384_40471386del , CM000677.2:g.40471384_40471386del GRCh38
NC_000015.9:g.40763583_40763585del , CM000677.1:g.40763583_40763585del GRCh37
NC_000015.8:g.38550875_38550877del NCBI36
NG_017074.1:g.5424_5426del , LRG_600:g.5424_5426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.171_173del MANE Select ENSP00000307297.6:p.Leu58del
ENST00000306243.6:c.171_173del ENSP00000307297.5:p.Leu58del
ENST00000559991.1:c.171_173del ENSP00000453882.1:p.Leu58del
NM_130468.3:c.171_173del , LRG_600t1:c.171_173del NP_569735.1:p.Leu58del
NM_130468.4:c.171_173del MANE Select NP_569735.1:p.Leu58del
Search 100 bp 5'
Search 100 bp 3'