Canonical Allele Identifier: CA2627824994

Gene: CHST14

Linked Data

• gnomAD v4: 15-40472304-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472307del , CM000677.2:g.40472307del	GRCh38
NC_000015.9:g.40764506del , CM000677.1:g.40764506del	GRCh37
NC_000015.8:g.38551798del	NCBI36
NG_017074.1:g.6347del , LRG_600:g.6347del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.1094del MANE Select	ENSP00000307297.6:p.Pro365HisfsTer?
ENST00000306243.6:c.1094del	ENSP00000307297.5:p.Pro365HisfsTer?
ENST00000559991.1:c.1019del	ENSP00000453882.1:p.Pro340HisfsTer?
NM_130468.3:c.1094del , LRG_600t1:c.1094del	NP_569735.1:p.Pro365HisfsTer?
NM_130468.4:c.1094del MANE Select	NP_569735.1:p.Pro365HisfsTer?