Canonical Allele Identifier: CA2627823994
Gene: CHST14 HGNC NCBI

Linked Data

gnomAD v4: 15-40471270-CCGGGCGCTGAGG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40471276_40471287del , CM000677.2:g.40471276_40471287del GRCh38
NC_000015.9:g.40763475_40763486del , CM000677.1:g.40763475_40763486del GRCh37
NC_000015.8:g.38550767_38550778del NCBI36
NG_017074.1:g.5316_5327del , LRG_600:g.5316_5327del

Transcript Alleles

HGVS Amino-acid change
ENST00000306243.7:c.63_74del MANE Select ENSP00000307297.6:p.Leu22_Ala25del
ENST00000306243.6:c.63_74del ENSP00000307297.5:p.Leu22_Ala25del
ENST00000559991.1:c.63_74del ENSP00000453882.1:p.Leu22_Ala25del
NM_130468.3:c.63_74del , LRG_600t1:c.63_74del NP_569735.1:p.Leu22_Ala25del
NM_130468.4:c.63_74del MANE Select NP_569735.1:p.Leu22_Ala25del
Search 100 bp 5'
Search 100 bp 3'