Canonical Allele Identifier: CA2627825209

Gene: CHST14

Linked Data

• gnomAD v4: 15-40472553-ATTGGGGGGATCTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40472562_40472574del , CM000677.2:g.40472562_40472574del	GRCh38
NC_000015.9:g.40764761_40764773del , CM000677.1:g.40764761_40764773del	GRCh37
NC_000015.8:g.38552053_38552065del	NCBI36
NG_017074.1:g.6602_6614del , LRG_600:g.6602_6614del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306243.7:c.*218_*230del MANE Select	ENSP00000307297.6:n.*218_*230del
ENST00000306243.6:c.*218_*230del	ENSP00000307297.5:n.*218_*230del
ENST00000559991.1:c.*218_*230del	ENSP00000453882.1:n.*218_*230del
NM_130468.3:c.*218_*230del , LRG_600t1:c.*218_*230del	NP_569735.1:n.*218_*230del
NM_130468.4:c.*218_*230del MANE Select	NP_569735.1:n.*218_*230del