Canonical Allele Identifier: CA2634344481

Gene: CHST6

Linked Data

• gnomAD v4: 16-75479093-A-ACACCTCGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479098_75479106dup , CM000678.2:g.75479098_75479106dup	GRCh38
NC_000016.9:g.75512996_75513004dup , CM000678.1:g.75512996_75513004dup	GRCh37
NC_000016.8:g.74070497_74070505dup	NCBI36
NG_016442.1:g.20927_20935dup
NG_016442.2:g.21340_21348dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.727_735dup MANE Select	ENSP00000328983.4:p.Val245_Cys246insArgGluVal
ENST00000390664.3:c.727_735dup	ENSP00000375079.2:p.Val245_Cys246insArgGluVal
ENST00000649341.1:c.727_735dup	ENSP00000497635.1:p.Val245_Cys246insArgGluVal
ENST00000649824.1:c.727_735dup	ENSP00000496806.1:p.Val245_Cys246insArgGluVal
ENST00000332272.8:c.727_735dup	ENSP00000328983.4:p.Val245_Cys246insArgGluVal
ENST00000390664.2:c.727_735dup	ENSP00000375079.2:p.Val245_Cys246insArgGluVal
NM_021615.4:c.727_735dup	NP_067628.1:p.Val245_Cys246insArgGluVal
XM_005255955.3:c.727_735dup	XP_005256012.1:p.Val245_Cys246insArgGluVal
XM_011523085.1:c.727_735dup	XP_011521387.1:p.Val245_Cys246insArgGluVal
NM_021615.5:c.727_735dup MANE Select	NP_067628.1:p.Val245_Cys246insArgGluVal
XM_005255955.5:c.727_735dup	XP_005256012.1:p.Val245_Cys246insArgGluVal
XM_011523085.3:c.727_735dup	XP_011521387.1:p.Val245_Cys246insArgGluVal
NR_163480.1:n.733+2715_733+2723dup
NR_163481.1:n.577+2715_577+2723dup