Canonical Allele Identifier: CA268823243
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs36087707
gnomAD v4: 15-40472555-T-TG
MyVariant Identifiers: chr15:g.40764754_40764755insG (hg19) chr15:g.40472555_40472556insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472561dup , CM000677.2:g.40472561dup GRCh38
NC_000015.9:g.40764760dup , CM000677.1:g.40764760dup GRCh37
NC_000015.8:g.38552052dup NCBI36
NG_017074.1:g.6601dup , LRG_600:g.6601dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*217dup MANE Select ENSP00000307297.6:n.*217dup
ENST00000306243.6:c.*217dup ENSP00000307297.5:n.*217dup
ENST00000559991.1:c.*217dup ENSP00000453882.1:n.*217dup
NM_130468.3:c.*217dup , LRG_600t1:c.*217dup NP_569735.1:n.*217dup
NM_130468.4:c.*217dup MANE Select NP_569735.1:n.*217dup
Search 100 bp 5'
Search 100 bp 3'