Canonical Allele Identifier: CA2627825096
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40472453-GATCCTGGATGGC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40472455_40472466del , CM000677.2:g.40472455_40472466del GRCh38
NC_000015.9:g.40764654_40764665del , CM000677.1:g.40764654_40764665del GRCh37
NC_000015.8:g.38551946_38551957del NCBI36
NG_017074.1:g.6495_6506del , LRG_600:g.6495_6506del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306243.7:c.*111_*122del MANE Select ENSP00000307297.6:n.*111_*122del
ENST00000306243.6:c.*111_*122del ENSP00000307297.5:n.*111_*122del
ENST00000559991.1:c.*111_*122del ENSP00000453882.1:n.*111_*122del
NM_130468.3:c.*111_*122del , LRG_600t1:c.*111_*122del NP_569735.1:n.*111_*122del
NM_130468.4:c.*111_*122del MANE Select NP_569735.1:n.*111_*122del
Search 100 bp 5'
Search 100 bp 3'