Canonical Allele Identifier: CA528531208

Gene: CHIT1

Linked Data

• dbSNP Id: rs1406450051
• gnomAD v2: 1-203194833-TC-T
• MyVariant Identifiers: chr1:g.203194834del (hg19) ; chr1:g.203225706del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225706del , CM000663.2:g.203225706del	GRCh38
NC_000001.10:g.203194834del , CM000663.1:g.203194834del	GRCh37
NC_000001.9:g.201461457del	NCBI36
NG_012867.1:g.9027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.220del MANE Select	ENSP00000356198.1:p.Glu74ArgfsTer10
ENST00000255427.7:c.220del	ENSP00000255427.3:p.Glu74ArgfsTer10
ENST00000367229.5:c.220del	ENSP00000356198.1:p.Glu74ArgfsTer10
ENST00000484834.5:n.4577del
ENST00000491855.5:c.220del	ENSP00000423778.1:p.Glu74ArgfsTer10
ENST00000503786.1:c.220del	ENSP00000421617.1:p.Glu74ArgfsTer10
ENST00000513472.5:n.416del
NM_001256125.1:c.220del	NP_001243054.2:p.Glu74ArgfsTer10
NM_001270509.1:c.220del	NP_001257438.1:p.Glu74ArgfsTer10
NM_003465.2:c.220del	NP_003456.1:p.Glu74ArgfsTer10
NR_045784.1:n.316del
NR_045785.1:n.316del
XM_011509109.1:c.265del	XP_011507411.1:p.Glu89ArgfsTer10
XM_011509110.1:c.265del	XP_011507412.1:p.Glu89ArgfsTer10
XR_921732.1:n.265del
NM_003465.3:c.220del MANE Select	NP_003456.1:p.Glu74ArgfsTer10
NM_001256125.2:c.220del	NP_001243054.2:p.Glu74ArgfsTer10
NR_045784.2:n.257del
NR_045785.2:n.257del