Canonical Allele Identifier: CA2481664949

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225688_203225691delinsACTC , CM000663.2:g.203225688_203225691delinsACTC	GRCh38
NC_000001.10:g.203194816_203194819delinsACTC , CM000663.1:g.203194816_203194819delinsACTC	GRCh37
NC_000001.9:g.201461439_201461442delinsACTC	NCBI36
NG_012867.1:g.9042_9045delinsGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.235_238delinsGAGT MANE Select	ENSP00000356198.1:p.Glu79=
ENST00000255427.7:c.235_238delinsGAGT	ENSP00000255427.3:p.Glu79=
ENST00000367229.5:c.235_238delinsGAGT	ENSP00000356198.1:p.Glu79=
ENST00000484834.5:n.4592_4595delinsGAGT
ENST00000491855.5:c.235_238delinsGAGT	ENSP00000423778.1:p.Glu79=
ENST00000503786.1:c.235_238delinsGAGT	ENSP00000421617.1:p.Glu79=
ENST00000513472.5:n.431_434delinsGAGT
NM_001256125.1:c.235_238delinsGAGT	NP_001243054.2:p.Glu79=
NM_001270509.1:c.235_238delinsGAGT	NP_001257438.1:p.Glu79=
NM_003465.2:c.235_238delinsGAGT	NP_003456.1:p.Glu79=
NR_045784.1:n.331_334delinsGAGT
NR_045785.1:n.331_334delinsGAGT
XM_011509109.1:c.280_283delinsGAGT	XP_011507411.1:p.Glu94=
XM_011509110.1:c.280_283delinsGAGT	XP_011507412.1:p.Glu94=
XR_921732.1:n.280_283delinsGAGT
NM_003465.3:c.235_238delinsGAGT MANE Select	NP_003456.1:p.Glu79=
NM_001256125.2:c.235_238delinsGAGT	NP_001243054.2:p.Glu79=
NR_045784.2:n.272_275delinsGAGT
NR_045785.2:n.272_275delinsGAGT