Canonical Allele Identifier: CA8175462

Gene: CHST6

Linked Data

• ClinVar Variation Id: 2506044
• ClinVar RCV Id: RCV003236275
• dbSNP Id: rs746184019
• ExAC: 16:75513153 C / CG
• gnomAD v2: 16-75513153-C-CG
• gnomAD v3: 16-75479255-C-CG
• gnomAD v4: 16-75479255-C-CG
• MyVariant Identifiers: chr16:g.75513153_75513154insG (hg19) ; chr16:g.75479255_75479256insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479259dup , CM000678.2:g.75479259dup	GRCh38
NC_000016.9:g.75513157dup , CM000678.1:g.75513157dup	GRCh37
NC_000016.8:g.74070658dup	NCBI36
NG_016442.1:g.20773dup
NG_016442.2:g.21186dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.573dup MANE Select	ENSP00000328983.4:p.Ala192ArgfsTer30
ENST00000390664.3:c.573dup	ENSP00000375079.2:p.Ala192ArgfsTer30
ENST00000649341.1:c.573dup	ENSP00000497635.1:p.Ala192ArgfsTer30
ENST00000649824.1:c.573dup	ENSP00000496806.1:p.Ala192ArgfsTer30
ENST00000332272.8:c.573dup	ENSP00000328983.4:p.Ala192ArgfsTer30
ENST00000390664.2:c.573dup	ENSP00000375079.2:p.Ala192ArgfsTer30
NM_021615.4:c.573dup	NP_067628.1:p.Ala192ArgfsTer30
XM_005255955.3:c.573dup	XP_005256012.1:p.Ala192ArgfsTer30
XM_011523085.1:c.573dup	XP_011521387.1:p.Ala192ArgfsTer30
NM_021615.5:c.573dup MANE Select	NP_067628.1:p.Ala192ArgfsTer30
XM_005255955.5:c.573dup	XP_005256012.1:p.Ala192ArgfsTer30
XM_011523085.3:c.573dup	XP_011521387.1:p.Ala192ArgfsTer30
NR_163480.1:n.733+2561dup
NR_163481.1:n.577+2561dup