Canonical Allele Identifier: CA2634345515

Gene: CHST6

Linked Data

• gnomAD v4: 16-75479429-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479432del , CM000678.2:g.75479432del	GRCh38
NC_000016.9:g.75513330del , CM000678.1:g.75513330del	GRCh37
NC_000016.8:g.74070831del	NCBI36
NG_016442.1:g.20599del
NG_016442.2:g.21012del

Transcript Alleles

HGVS	Amino-acid change
ENST00000332272.9:c.399del MANE Select	ENSP00000328983.4:p.Ala134ProfsTer?
ENST00000390664.3:c.399del	ENSP00000375079.2:p.Ala134ProfsTer?
ENST00000649341.1:c.399del	ENSP00000497635.1:p.Ala134ProfsTer?
ENST00000649824.1:c.399del	ENSP00000496806.1:p.Ala134ProfsTer?
ENST00000332272.8:c.399del	ENSP00000328983.4:p.Ala134ProfsTer?
ENST00000390664.2:c.399del	ENSP00000375079.2:p.Ala134ProfsTer?
NM_021615.4:c.399del	NP_067628.1:p.Ala134ProfsTer?
XM_005255955.3:c.399del	XP_005256012.1:p.Ala134ProfsTer?
XM_011523085.1:c.399del	XP_011521387.1:p.Ala134ProfsTer?
NM_021615.5:c.399del MANE Select	NP_067628.1:p.Ala134ProfsTer?
XM_005255955.5:c.399del	XP_005256012.1:p.Ala134ProfsTer?
XM_011523085.3:c.399del	XP_011521387.1:p.Ala134ProfsTer?
NR_163480.1:n.733+2387del
NR_163481.1:n.577+2387del