Canonical Allele Identifier: CA623583403

Gene: CHST6

Linked Data

• dbSNP Id: rs1199338503
• gnomAD v2: 16-75513038-C-CA
• gnomAD v4: 16-75479140-C-CA
• MyVariant Identifiers: chr16:g.75513038_75513039insA (hg19) ; chr16:g.75479140_75479141insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479140_75479141insA , CM000678.2:g.75479140_75479141insA	GRCh38
NC_000016.9:g.75513038_75513039insA , CM000678.1:g.75513038_75513039insA	GRCh37
NC_000016.8:g.74070539_74070540insA	NCBI36
NG_016442.1:g.20888_20889insT
NG_016442.2:g.21301_21302insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.688_689insT MANE Select	ENSP00000328983.4:p.Gly230ValfsTer19
ENST00000390664.3:c.688_689insT	ENSP00000375079.2:p.Gly230ValfsTer19
ENST00000649341.1:c.688_689insT	ENSP00000497635.1:p.Gly230ValfsTer19
ENST00000649824.1:c.688_689insT	ENSP00000496806.1:p.Gly230ValfsTer19
ENST00000332272.8:c.688_689insT	ENSP00000328983.4:p.Gly230ValfsTer19
ENST00000390664.2:c.688_689insT	ENSP00000375079.2:p.Gly230ValfsTer19
NM_021615.4:c.688_689insT	NP_067628.1:p.Gly230ValfsTer19
XM_005255955.3:c.688_689insT	XP_005256012.1:p.Gly230ValfsTer19
XM_011523085.1:c.688_689insT	XP_011521387.1:p.Gly230ValfsTer19
NM_021615.5:c.688_689insT MANE Select	NP_067628.1:p.Gly230ValfsTer19
XM_005255955.5:c.688_689insT	XP_005256012.1:p.Gly230ValfsTer19
XM_011523085.3:c.688_689insT	XP_011521387.1:p.Gly230ValfsTer19
NR_163480.1:n.733+2676_733+2677insT
NR_163481.1:n.577+2676_577+2677insT