Canonical Allele Identifier: CA623583399

Gene: CHST6

Linked Data

• dbSNP Id: rs1408348477
• gnomAD v2: 16-75512973-TGCGTAC-T
• gnomAD v4: 16-75479075-TGCGTAC-T
• MyVariant Identifiers: chr16:g.75512974_75512979del (hg19) ; chr16:g.75479076_75479081del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479077_75479082del , CM000678.2:g.75479077_75479082del	GRCh38
NC_000016.9:g.75512975_75512980del , CM000678.1:g.75512975_75512980del	GRCh37
NC_000016.8:g.74070476_74070481del	NCBI36
NG_016442.1:g.20948_20953del
NG_016442.2:g.21361_21366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.748_753del MANE Select	ENSP00000328983.4:p.Val250_Arg251del
ENST00000390664.3:c.748_753del	ENSP00000375079.2:p.Val250_Arg251del
ENST00000649341.1:c.748_753del	ENSP00000497635.1:p.Val250_Arg251del
ENST00000649824.1:c.748_753del	ENSP00000496806.1:p.Val250_Arg251del
ENST00000332272.8:c.748_753del	ENSP00000328983.4:p.Val250_Arg251del
ENST00000390664.2:c.748_753del	ENSP00000375079.2:p.Val250_Arg251del
NM_021615.4:c.748_753del	NP_067628.1:p.Val250_Arg251del
XM_005255955.3:c.748_753del	XP_005256012.1:p.Val250_Arg251del
XM_011523085.1:c.748_753del	XP_011521387.1:p.Val250_Arg251del
NM_021615.5:c.748_753del MANE Select	NP_067628.1:p.Val250_Arg251del
XM_005255955.5:c.748_753del	XP_005256012.1:p.Val250_Arg251del
XM_011523085.3:c.748_753del	XP_011521387.1:p.Val250_Arg251del
NR_163480.1:n.733+2736_733+2741del
NR_163481.1:n.577+2736_577+2741del