Canonical Allele Identifier: CA617242872
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs771561630
gnomAD v2: 15-40764569-TG-T
gnomAD v3: 15-40472370-TG-T
gnomAD v4: 15-40472370-TG-T
MyVariant Identifiers: chr15:g.40764570del (hg19) chr15:g.40472371del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472374del , CM000677.2:g.40472374del GRCh38
NC_000015.9:g.40764573del , CM000677.1:g.40764573del GRCh37
NC_000015.8:g.38551865del NCBI36
NG_017074.1:g.6414del , LRG_600:g.6414del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*30del MANE Select ENSP00000307297.6:n.*30del
ENST00000306243.6:c.*30del ENSP00000307297.5:n.*30del
ENST00000559991.1:c.*30del ENSP00000453882.1:n.*30del
NM_130468.3:c.*30del , LRG_600t1:c.*30del NP_569735.1:n.*30del
NM_130468.4:c.*30del MANE Select NP_569735.1:n.*30del
Search 100 bp 5'
Search 100 bp 3'