Canonical Allele Identifier: CA528531206

Gene: CHIT1

Linked Data

• dbSNP Id: rs1558162809
• gnomAD v2: 1-203194816-ACTC-A
• gnomAD v4: 1-203225688-ACTC-A
• MyVariant Identifiers: chr1:g.203194817_203194819del (hg19) ; chr1:g.203225689_203225691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225691_203225693del , CM000663.2:g.203225691_203225693del	GRCh38
NC_000001.10:g.203194819_203194821del , CM000663.1:g.203194819_203194821del	GRCh37
NC_000001.9:g.201461442_201461444del	NCBI36
NG_012867.1:g.9042_9044del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.235_237del MANE Select	ENSP00000356198.1:p.Glu79del
ENST00000255427.7:c.235_237del	ENSP00000255427.3:p.Glu79del
ENST00000367229.5:c.235_237del	ENSP00000356198.1:p.Glu79del
ENST00000484834.5:n.4592_4594del
ENST00000491855.5:c.235_237del	ENSP00000423778.1:p.Glu79del
ENST00000503786.1:c.235_237del	ENSP00000421617.1:p.Glu79del
ENST00000513472.5:n.431_433del
NM_001256125.1:c.235_237del	NP_001243054.2:p.Glu79del
NM_001270509.1:c.235_237del	NP_001257438.1:p.Glu79del
NM_003465.2:c.235_237del	NP_003456.1:p.Glu79del
NR_045784.1:n.331_333del
NR_045785.1:n.331_333del
XM_011509109.1:c.280_282del	XP_011507411.1:p.Glu94del
XM_011509110.1:c.280_282del	XP_011507412.1:p.Glu94del
XR_921732.1:n.280_282del
NM_003465.3:c.235_237del MANE Select	NP_003456.1:p.Glu79del
NM_001256125.2:c.235_237del	NP_001243054.2:p.Glu79del
NR_045784.2:n.272_274del
NR_045785.2:n.272_274del