Canonical Allele Identifier: CA2649964238

Gene: CHIT1

Linked Data

• gnomAD v4: 1-203225608-G-GCCCAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225608_203225609insCCCAAA , CM000663.2:g.203225608_203225609insCCCAAA	GRCh38
NC_000001.10:g.203194736_203194737insCCCAAA , CM000663.1:g.203194736_203194737insCCCAAA	GRCh37
NC_000001.9:g.201461359_201461360insCCCAAA	NCBI36
NG_012867.1:g.9124_9125insTTTGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.257+60_257+61insTTTGGG MANE Select	ENSP00000356198.1:n.257+60_257+61insTTTGGG
ENST00000255427.7:c.257+60_257+61insTTTGGG	ENSP00000255427.3:n.257+60_257+61insTTTGGG
ENST00000367229.5:c.257+60_257+61insTTTGGG	ENSP00000356198.1:n.257+60_257+61insTTTGGG
ENST00000484834.5:n.4614+60_4614+61insTTTGGG
ENST00000491855.5:c.257+60_257+61insTTTGGG	ENSP00000423778.1:n.257+60_257+61insTTTGGG
ENST00000503786.1:c.257+60_257+61insTTTGGG	ENSP00000421617.1:n.257+60_257+61insTTTGGG
ENST00000513472.5:n.453+60_453+61insTTTGGG
NM_001256125.1:c.257+60_257+61insTTTGGG	NP_001243054.2:n.257+60_257+61insTTTGGG
NM_001270509.1:c.257+60_257+61insTTTGGG	NP_001257438.1:n.257+60_257+61insTTTGGG
NM_003465.2:c.257+60_257+61insTTTGGG	NP_003456.1:n.257+60_257+61insTTTGGG
NR_045784.1:n.353+60_353+61insTTTGGG
NR_045785.1:n.353+60_353+61insTTTGGG
XM_011509109.1:c.302+60_302+61insTTTGGG	XP_011507411.1:n.302+60_302+61insTTTGGG
XM_011509110.1:c.302+60_302+61insTTTGGG	XP_011507412.1:n.302+60_302+61insTTTGGG
XR_921732.1:n.302+60_302+61insTTTGGG
NM_003465.3:c.257+60_257+61insTTTGGG MANE Select	NP_003456.1:n.257+60_257+61insTTTGGG
NM_001256125.2:c.257+60_257+61insTTTGGG	NP_001243054.2:n.257+60_257+61insTTTGGG
NR_045784.2:n.294+60_294+61insTTTGGG
NR_045785.2:n.294+60_294+61insTTTGGG