Canonical Allele Identifier: CA2634344543

Gene: CHST6

Linked Data

• gnomAD v4: 16-75479137-G-GTGCCGTTGGTGCCCAGCACGA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75479146_75479166dup , CM000678.2:g.75479146_75479166dup	GRCh38
NC_000016.9:g.75513044_75513064dup , CM000678.1:g.75513044_75513064dup	GRCh37
NC_000016.8:g.74070545_74070565dup	NCBI36
NG_016442.1:g.20871_20891dup
NG_016442.2:g.21284_21304dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332272.9:c.671_691dup MANE Select	ENSP00000328983.4:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
ENST00000390664.3:c.671_691dup	ENSP00000375079.2:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
ENST00000649341.1:c.671_691dup	ENSP00000497635.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
ENST00000649824.1:c.671_691dup	ENSP00000496806.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
ENST00000332272.8:c.671_691dup	ENSP00000328983.4:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
ENST00000390664.2:c.671_691dup	ENSP00000375079.2:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
NM_021615.4:c.671_691dup	NP_067628.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
XM_005255955.3:c.671_691dup	XP_005256012.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
XM_011523085.1:c.671_691dup	XP_011521387.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
NM_021615.5:c.671_691dup MANE Select	NP_067628.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
XM_005255955.5:c.671_691dup	XP_005256012.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
XM_011523085.3:c.671_691dup	XP_011521387.1:p.Gly230_Thr231insIleValLeuGlyThrAsnGly
NR_163480.1:n.733+2659_733+2679dup
NR_163481.1:n.577+2659_577+2679dup