Canonical Allele Identifier: CA2481664950

Gene: CHIT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225692_203225693delinsCT , CM000663.2:g.203225692_203225693delinsCT	GRCh38
NC_000001.10:g.203194820_203194821delinsCT , CM000663.1:g.203194820_203194821delinsCT	GRCh37
NC_000001.9:g.201461443_201461444delinsCT	NCBI36
NG_012867.1:g.9040_9041delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.233_234delinsAG MANE Select	ENSP00000356198.1:p.Gln78=
ENST00000255427.7:c.233_234delinsAG	ENSP00000255427.3:p.Gln78=
ENST00000367229.5:c.233_234delinsAG	ENSP00000356198.1:p.Gln78=
ENST00000484834.5:n.4590_4591delinsAG
ENST00000491855.5:c.233_234delinsAG	ENSP00000423778.1:p.Gln78=
ENST00000503786.1:c.233_234delinsAG	ENSP00000421617.1:p.Gln78=
ENST00000513472.5:n.429_430delinsAG
NM_001256125.1:c.233_234delinsAG	NP_001243054.2:p.Gln78=
NM_001270509.1:c.233_234delinsAG	NP_001257438.1:p.Gln78=
NM_003465.2:c.233_234delinsAG	NP_003456.1:p.Gln78=
NR_045784.1:n.329_330delinsAG
NR_045785.1:n.329_330delinsAG
XM_011509109.1:c.278_279delinsAG	XP_011507411.1:p.Gln93=
XM_011509110.1:c.278_279delinsAG	XP_011507412.1:p.Gln93=
XR_921732.1:n.278_279delinsAG
NM_003465.3:c.233_234delinsAG MANE Select	NP_003456.1:p.Gln78=
NM_001256125.2:c.233_234delinsAG	NP_001243054.2:p.Gln78=
NR_045784.2:n.270_271delinsAG
NR_045785.2:n.270_271delinsAG