Canonical Allele Identifier: CA2649964239

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225609-G-GCCACACAGTGGGTCTGTGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225609_203225610insCCACACAGTGGGTCTGTGGC , CM000663.2:g.203225609_203225610insCCACACAGTGGGTCTGTGGC	GRCh38
NC_000001.10:g.203194737_203194738insCCACACAGTGGGTCTGTGGC , CM000663.1:g.203194737_203194738insCCACACAGTGGGTCTGTGGC	GRCh37
NC_000001.9:g.201461360_201461361insCCACACAGTGGGTCTGTGGC	NCBI36
NG_012867.1:g.9123_9124insGCCACAGACCCACTGTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.257+59_257+60insGCCACAGACCCACTGTGTGG MANE Select	ENSP00000356198.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
ENST00000255427.7:c.257+59_257+60insGCCACAGACCCACTGTGTGG	ENSP00000255427.3:n.257+59_257+60insGCCACAGACCCACTGTGTGG
ENST00000367229.5:c.257+59_257+60insGCCACAGACCCACTGTGTGG	ENSP00000356198.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
ENST00000484834.5:n.4614+59_4614+60insGCCACAGACCCACTGTGTGG
ENST00000491855.5:c.257+59_257+60insGCCACAGACCCACTGTGTGG	ENSP00000423778.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
ENST00000503786.1:c.257+59_257+60insGCCACAGACCCACTGTGTGG	ENSP00000421617.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
ENST00000513472.5:n.453+59_453+60insGCCACAGACCCACTGTGTGG
NM_001256125.1:c.257+59_257+60insGCCACAGACCCACTGTGTGG	NP_001243054.2:n.257+59_257+60insGCCACAGACCCACTGTGTGG
NM_001270509.1:c.257+59_257+60insGCCACAGACCCACTGTGTGG	NP_001257438.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
NM_003465.2:c.257+59_257+60insGCCACAGACCCACTGTGTGG	NP_003456.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
NR_045784.1:n.353+59_353+60insGCCACAGACCCACTGTGTGG
NR_045785.1:n.353+59_353+60insGCCACAGACCCACTGTGTGG
XM_011509109.1:c.302+59_302+60insGCCACAGACCCACTGTGTGG	XP_011507411.1:n.302+59_302+60insGCCACAGACCCACTGTGTGG
XM_011509110.1:c.302+59_302+60insGCCACAGACCCACTGTGTGG	XP_011507412.1:n.302+59_302+60insGCCACAGACCCACTGTGTGG
XR_921732.1:n.302+59_302+60insGCCACAGACCCACTGTGTGG
NM_003465.3:c.257+59_257+60insGCCACAGACCCACTGTGTGG MANE Select	NP_003456.1:n.257+59_257+60insGCCACAGACCCACTGTGTGG
NM_001256125.2:c.257+59_257+60insGCCACAGACCCACTGTGTGG	NP_001243054.2:n.257+59_257+60insGCCACAGACCCACTGTGTGG
NR_045784.2:n.294+59_294+60insGCCACAGACCCACTGTGTGG
NR_045785.2:n.294+59_294+60insGCCACAGACCCACTGTGTGG