Canonical Allele Identifier: CA1340031

Gene: CHIT1

Linked Data

• dbSNP Id: rs777281913
• ExAC: 1:203194797 ATCT / A
• gnomAD v2: 1-203194797-ATCT-A
• gnomAD v3: 1-203225669-ATCT-A
• gnomAD v4: 1-203225669-ATCT-A
• MyVariant Identifiers: chr1:g.203194798_203194800del (hg19) ; chr1:g.203225670_203225672del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225675_203225677del , CM000663.2:g.203225675_203225677del	GRCh38
NC_000001.10:g.203194803_203194805del , CM000663.1:g.203194803_203194805del	GRCh37
NC_000001.9:g.201461426_201461428del	NCBI36
NG_012867.1:g.9061_9063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.254_256del MANE Select	ENSP00000356198.1:p.Lys85del
ENST00000255427.7:c.254_256del	ENSP00000255427.3:p.Lys85del
ENST00000367229.5:c.254_256del	ENSP00000356198.1:p.Lys85del
ENST00000484834.5:n.4611_4613del
ENST00000491855.5:c.254_256del	ENSP00000423778.1:p.Lys85del
ENST00000503786.1:c.254_256del	ENSP00000421617.1:p.Lys85del
ENST00000513472.5:n.450_452del
NM_001256125.1:c.254_256del	NP_001243054.2:p.Lys85del
NM_001270509.1:c.254_256del	NP_001257438.1:p.Lys85del
NM_003465.2:c.254_256del	NP_003456.1:p.Lys85del
NR_045784.1:n.350_352del
NR_045785.1:n.350_352del
XM_011509109.1:c.299_301del	XP_011507411.1:p.Lys100del
XM_011509110.1:c.299_301del	XP_011507412.1:p.Lys100del
XR_921732.1:n.299_301del
NM_003465.3:c.254_256del MANE Select	NP_003456.1:p.Lys85del
NM_001256125.2:c.254_256del	NP_001243054.2:p.Lys85del
NR_045784.2:n.291_293del
NR_045785.2:n.291_293del