Canonical Allele Identifier: CA979125814

Gene: CHST6

Linked Data

• dbSNP Id: rs2080099536
• gnomAD v3: 16-75478895-GTCCAGA-G
• gnomAD v4: 16-75478895-GTCCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75478899_75478904del , CM000678.2:g.75478899_75478904del	GRCh38
NC_000016.9:g.75512797_75512802del , CM000678.1:g.75512797_75512802del	GRCh37
NC_000016.8:g.74070298_74070303del	NCBI36
NG_016442.1:g.21128_21133del
NG_016442.2:g.21541_21546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.928_933del MANE Select	ENSP00000328983.4:p.Ser310_Gly311del
ENST00000390664.3:c.928_933del	ENSP00000375079.2:p.Ser310_Gly311del
ENST00000649341.1:c.928_933del	ENSP00000497635.1:p.Ser310_Gly311del
ENST00000649824.1:c.928_933del	ENSP00000496806.1:p.Ser310_Gly311del
ENST00000332272.8:c.928_933del	ENSP00000328983.4:p.Ser310_Gly311del
ENST00000390664.2:c.928_933del	ENSP00000375079.2:p.Ser310_Gly311del
NM_021615.4:c.928_933del	NP_067628.1:p.Ser310_Gly311del
XM_005255955.3:c.928_933del	XP_005256012.1:p.Ser310_Gly311del
XM_011523085.1:c.928_933del	XP_011521387.1:p.Ser310_Gly311del
NM_021615.5:c.928_933del MANE Select	NP_067628.1:p.Ser310_Gly311del
XM_005255955.5:c.928_933del	XP_005256012.1:p.Ser310_Gly311del
XM_011523085.3:c.928_933del	XP_011521387.1:p.Ser310_Gly311del
NR_163480.1:n.733+2916_733+2921del
NR_163481.1:n.577+2916_577+2921del