Canonical Allele Identifier: CA968992174
Gene: CHST14 HGNC NCBI

Linked Data

dbSNP Id: rs1894364645
gnomAD v3: 15-40472433-TG-T
gnomAD v4: 15-40472433-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472437del , CM000677.2:g.40472437del GRCh38
NC_000015.9:g.40764636del , CM000677.1:g.40764636del GRCh37
NC_000015.8:g.38551928del NCBI36
NG_017074.1:g.6477del , LRG_600:g.6477del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*93del MANE Select ENSP00000307297.6:n.*93del
ENST00000306243.6:c.*93del ENSP00000307297.5:n.*93del
ENST00000559991.1:c.*93del ENSP00000453882.1:n.*93del
NM_130468.3:c.*93del , LRG_600t1:c.*93del NP_569735.1:n.*93del
NM_130468.4:c.*93del MANE Select NP_569735.1:n.*93del
Search 100 bp 5'
Search 100 bp 3'