Canonical Allele Identifier: CA712724070

Gene: CHST14

Linked Data

• dbSNP Id: rs1297125489
• MyVariant Identifiers: chr15:g.40764768_40764770del (hg19) ; chr15:g.40472569_40472571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472572_40472574del , CM000677.2:g.40472572_40472574del	GRCh38
NC_000015.9:g.40764771_40764773del , CM000677.1:g.40764771_40764773del	GRCh37
NC_000015.8:g.38552063_38552065del	NCBI36
NG_017074.1:g.6612_6614del , LRG_600:g.6612_6614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.*228_*230del MANE Select	ENSP00000307297.6:n.*228_*230del
ENST00000306243.6:c.*228_*230del	ENSP00000307297.5:n.*228_*230del
ENST00000559991.1:c.*228_*230del	ENSP00000453882.1:n.*228_*230del
NM_130468.3:c.*228_*230del , LRG_600t1:c.*228_*230del	NP_569735.1:n.*228_*230del
NM_130468.4:c.*228_*230del MANE Select	NP_569735.1:n.*228_*230del