Canonical Allele Identifier: CA2171795594
Gene: CHST14 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472568_40472571delinsTGGG , CM000677.2:g.40472568_40472571delinsTGGG GRCh38
NC_000015.9:g.40764767_40764770delinsTGGG , CM000677.1:g.40764767_40764770delinsTGGG GRCh37
NC_000015.8:g.38552059_38552062delinsTGGG NCBI36
NG_017074.1:g.6608_6611delinsTGGG , LRG_600:g.6608_6611delinsTGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*224_*227delinsTGGG MANE Select ENSP00000307297.6:n.*224_*227delinsTGGG
ENST00000306243.6:c.*224_*227delinsTGGG ENSP00000307297.5:n.*224_*227delinsTGGG
ENST00000559991.1:c.*224_*227delinsTGGG ENSP00000453882.1:n.*224_*227delinsTGGG
NM_130468.3:c.*224_*227delinsTGGG , LRG_600t1:c.*224_*227delinsTGGG NP_569735.1:n.*224_*227delinsTGGG
NM_130468.4:c.*224_*227delinsTGGG MANE Select NP_569735.1:n.*224_*227delinsTGGG