Canonical Allele Identifier: CA2627825222
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472561-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472562del , CM000677.2:g.40472562del GRCh38
NC_000015.9:g.40764761del , CM000677.1:g.40764761del GRCh37
NC_000015.8:g.38552053del NCBI36
NG_017074.1:g.6602del , LRG_600:g.6602del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*218del MANE Select ENSP00000307297.6:n.*218del
ENST00000306243.6:c.*218del ENSP00000307297.5:n.*218del
ENST00000559991.1:c.*218del ENSP00000453882.1:n.*218del
NM_130468.3:c.*218del , LRG_600t1:c.*218del NP_569735.1:n.*218del
NM_130468.4:c.*218del MANE Select NP_569735.1:n.*218del
Search 100 bp 5'
Search 100 bp 3'