Canonical Allele Identifier: CA1340021

Gene: CHIT1

Linked Data

• dbSNP Id: rs752644327
• ExAC: 1:203194751 TCAC / T
• gnomAD v2: 1-203194751-TCAC-T
• gnomAD v4: 1-203225623-TCAC-T
• MyVariant Identifiers: chr1:g.203194752_203194754del (hg19) ; chr1:g.203225624_203225626del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.203225625_203225627del , CM000663.2:g.203225625_203225627del	GRCh38
NC_000001.10:g.203194753_203194755del , CM000663.1:g.203194753_203194755del	GRCh37
NC_000001.9:g.201461376_201461378del	NCBI36
NG_012867.1:g.9107_9109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367229.6:c.257+43_257+45del MANE Select	ENSP00000356198.1:n.257+43_257+45del
ENST00000255427.7:c.257+43_257+45del	ENSP00000255427.3:n.257+43_257+45del
ENST00000367229.5:c.257+43_257+45del	ENSP00000356198.1:n.257+43_257+45del
ENST00000484834.5:n.4614+43_4614+45del
ENST00000491855.5:c.257+43_257+45del	ENSP00000423778.1:n.257+43_257+45del
ENST00000503786.1:c.257+43_257+45del	ENSP00000421617.1:n.257+43_257+45del
ENST00000513472.5:n.453+43_453+45del
NM_001256125.1:c.257+43_257+45del	NP_001243054.2:n.257+43_257+45del
NM_001270509.1:c.257+43_257+45del	NP_001257438.1:n.257+43_257+45del
NM_003465.2:c.257+43_257+45del	NP_003456.1:n.257+43_257+45del
NR_045784.1:n.353+43_353+45del
NR_045785.1:n.353+43_353+45del
XM_011509109.1:c.302+43_302+45del	XP_011507411.1:n.302+43_302+45del
XM_011509110.1:c.302+43_302+45del	XP_011507412.1:n.302+43_302+45del
XR_921732.1:n.302+43_302+45del
NM_003465.3:c.257+43_257+45del MANE Select	NP_003456.1:n.257+43_257+45del
NM_001256125.2:c.257+43_257+45del	NP_001243054.2:n.257+43_257+45del
NR_045784.2:n.294+43_294+45del
NR_045785.2:n.294+43_294+45del