Canonical Allele Identifier: CA968992167

Gene: CHST14

Linked Data

• dbSNP Id: rs1894364439
• gnomAD v3: 15-40472423-ACT-A
• gnomAD v4: 15-40472423-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472426_40472427del , CM000677.2:g.40472426_40472427del	GRCh38
NC_000015.9:g.40764625_40764626del , CM000677.1:g.40764625_40764626del	GRCh37
NC_000015.8:g.38551917_38551918del	NCBI36
NG_017074.1:g.6466_6467del , LRG_600:g.6466_6467del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.*82_*83del MANE Select	ENSP00000307297.6:n.*82_*83del
ENST00000306243.6:c.*82_*83del	ENSP00000307297.5:n.*82_*83del
ENST00000559991.1:c.*82_*83del	ENSP00000453882.1:n.*82_*83del
NM_130468.3:c.*82_*83del , LRG_600t1:c.*82_*83del	NP_569735.1:n.*82_*83del
NM_130468.4:c.*82_*83del MANE Select	NP_569735.1:n.*82_*83del