Canonical Allele Identifier: CA2171795485
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472331_40472355delinsCGTGTCAGCAGTGACCATGGGTGTG , CM000677.2:g.40472331_40472355delinsCGTGTCAGCAGTGACCATGGGTGTG GRCh38
NC_000015.9:g.40764530_40764554delinsCGTGTCAGCAGTGACCATGGGTGTG , CM000677.1:g.40764530_40764554delinsCGTGTCAGCAGTGACCATGGGTGTG GRCh37
NC_000015.8:g.38551822_38551846delinsCGTGTCAGCAGTGACCATGGGTGTG NCBI36
NG_017074.1:g.6371_6395delinsCGTGTCAGCAGTGACCATGGGTGTG , LRG_600:g.6371_6395delinsCGTGTCAGCAGTGACCATGGGTGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG MANE Select ENSP00000307297.6:n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGT...
ENST00000306243.6:c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG ENSP00000307297.5:n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGT...
ENST00000559991.1:c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGTG ENSP00000453882.1:n.[c.1043_*11delinsCGTGTCAGCAGTGACCATGGGTGT...
NM_130468.3:c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG , LRG_600t1:c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG NP_569735.1:n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala3...
NM_130468.4:c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG MANE Select NP_569735.1:n.[c.1118_*11delinsCGTGTCAGCAGTGACCATGGGTGTG;Ala3...