Canonical Allele Identifier: CA968992207

Gene: CHST14

Linked Data

• dbSNP Id: rs1894366119
• gnomAD v3: 15-40472546-GCTC-G
• gnomAD v4: 15-40472546-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472550_40472552del , CM000677.2:g.40472550_40472552del	GRCh38
NC_000015.9:g.40764749_40764751del , CM000677.1:g.40764749_40764751del	GRCh37
NC_000015.8:g.38552041_38552043del	NCBI36
NG_017074.1:g.6590_6592del , LRG_600:g.6590_6592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.*206_*208del MANE Select	ENSP00000307297.6:n.*206_*208del
ENST00000306243.6:c.*206_*208del	ENSP00000307297.5:n.*206_*208del
ENST00000559991.1:c.*206_*208del	ENSP00000453882.1:n.*206_*208del
NM_130468.3:c.*206_*208del , LRG_600t1:c.*206_*208del	NP_569735.1:n.*206_*208del
NM_130468.4:c.*206_*208del MANE Select	NP_569735.1:n.*206_*208del