Canonical Allele Identifier: CA2497030152

Gene: CHST6

Linked Data

• ClinVar Variation Id: 1300205
• ClinVar RCV Id: RCV001731224
• dbSNP Id: rs2151665554

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75478981_75478982delinsCA , CM000678.2:g.75478981_75478982delinsCA	GRCh38
NC_000016.9:g.75512879_75512880delinsCA , CM000678.1:g.75512879_75512880delinsCA	GRCh37
NC_000016.8:g.74070380_74070381delinsCA	NCBI36
NG_016442.1:g.21047_21048delinsTG
NG_016442.2:g.21460_21461delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.847_848delinsTG MANE Select	ENSP00000328983.4:p.Glu283Ter
ENST00000390664.3:c.847_848delinsTG	ENSP00000375079.2:p.Glu283Ter
ENST00000649341.1:c.847_848delinsTG	ENSP00000497635.1:p.Glu283Ter
ENST00000649824.1:c.847_848delinsTG	ENSP00000496806.1:p.Glu283Ter
ENST00000332272.8:c.847_848delinsTG	ENSP00000328983.4:p.Glu283Ter
ENST00000390664.2:c.847_848delinsTG	ENSP00000375079.2:p.Glu283Ter
NM_021615.4:c.847_848delinsTG	NP_067628.1:p.Glu283Ter
XM_005255955.3:c.847_848delinsTG	XP_005256012.1:p.Glu283Ter
XM_011523085.1:c.847_848delinsTG	XP_011521387.1:p.Glu283Ter
NM_021615.5:c.847_848delinsTG MANE Select	NP_067628.1:p.Glu283Ter
XM_005255955.5:c.847_848delinsTG	XP_005256012.1:p.Glu283Ter
XM_011523085.3:c.847_848delinsTG	XP_011521387.1:p.Glu283Ter
NR_163480.1:n.733+2835_733+2836delinsTG
NR_163481.1:n.577+2835_577+2836delinsTG