Canonical Allele Identifier: CA2667942555

Gene: MRPS22

Linked Data

• gnomAD v4: 3-139352693-ACCTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352694_139352699del , CM000665.2:g.139352694_139352699del	GRCh38
NC_000003.11:g.139071536_139071541del , CM000665.1:g.139071536_139071541del	GRCh37
NC_000003.10:g.140554226_140554231del	NCBI36
NG_012174.1:g.13676_13681del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.570_575del	ENSP00000419303.2:p.Asp190_Leu192delinsGlu
ENST00000480644.2:c.696_701del	ENSP00000420229.2:p.Asp232_Leu234delinsGlu
ENST00000492644.2:n.3034_3039del
ENST00000684961.1:c.399_404del	ENSP00000508439.1:p.Asp133_Leu135delinsGlu
ENST00000686433.1:c.726_731del	ENSP00000509173.1:p.Asp242_Leu244delinsGlu
ENST00000687538.1:c.570_575del	ENSP00000508887.1:p.Asp190_Leu192delinsGlu
ENST00000688697.1:c.780_785del	ENSP00000510396.1:p.Asp260_Leu262delinsGlu
ENST00000689286.1:c.570_575del	ENSP00000509897.1:p.Asp190_Leu192delinsGlu
ENST00000689925.1:c.*121_*126del	ENSP00000510082.1:n.*121_*126del
ENST00000690298.1:c.*421_*426del	ENSP00000509376.1:n.*421_*426del
ENST00000691070.1:c.696_701del	ENSP00000509723.1:p.Asp232_Leu234delinsGlu
ENST00000692727.1:n.3302_3307del
ENST00000693155.1:n.1457_1462del
ENST00000310776.9:c.777_782del	ENSP00000310785.5:p.Asp259_Leu261delinsGlu
ENST00000680020.1:c.780_785del MANE Select	ENSP00000505414.1:p.Asp260_Leu262delinsGlu
ENST00000310776.8:c.780_785del	ENSP00000310785.4:p.Asp260_Leu262delinsGlu
ENST00000465056.5:c.777_782del	ENSP00000418233.1:p.Asp259_Leu261delinsGlu
ENST00000478464.5:c.657_662del	ENSP00000419303.1:p.Asp219_Leu221delinsGlu
ENST00000480644.1:c.265_270del
ENST00000480938.5:n.1434_1439del
ENST00000492644.1:n.1825_1830del
ENST00000495075.5:c.780_785del	ENSP00000418008.1:p.Asp260_Leu262delinsGlu
ENST00000498505.5:c.*377_*382del	ENSP00000420482.1:n.*377_*382del
NM_020191.2:c.780_785del	NP_064576.1:p.Asp260_Leu262delinsGlu
XM_005247640.2:c.777_782del	XP_005247697.1:p.Asp259_Leu261delinsGlu
XM_006713703.2:c.726_731del	XP_006713766.1:p.Asp242_Leu244delinsGlu
XM_011512995.1:c.657_662del	XP_011511297.1:p.Asp219_Leu221delinsGlu
XM_011512996.1:c.654_659del	XP_011511298.1:p.Asp218_Leu220delinsGlu
NM_001363857.1:c.657_662del	NP_001350786.1:p.Asp219_Leu221delinsGlu
NM_001363893.1:c.777_782del	NP_001350822.1:p.Asp259_Leu261delinsGlu
NM_020191.3:c.780_785del	NP_064576.1:p.Asp260_Leu262delinsGlu
XM_006713703.4:c.726_731del	XP_006713766.1:p.Asp242_Leu244delinsGlu
XM_011512996.2:c.654_659del	XP_011511298.1:p.Asp218_Leu220delinsGlu
NM_020191.4:c.780_785del MANE Select	NP_064576.1:p.Asp260_Leu262delinsGlu