Canonical Allele Identifier: CA546892698

Gene: MRPS22

Linked Data

• dbSNP Id: rs1293501189
• gnomAD v2: 3-139065693-CTTCTTA-C
• gnomAD v3: 3-139346851-CTTCTTA-C
• gnomAD v4: 3-139346851-CTTCTTA-C
• MyVariant Identifiers: chr3:g.139065694_139065699del (hg19) ; chr3:g.139346852_139346857del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139346854_139346859del , CM000665.2:g.139346854_139346859del	GRCh38
NC_000003.11:g.139065696_139065701del , CM000665.1:g.139065696_139065701del	GRCh37
NC_000003.10:g.140548386_140548391del	NCBI36
NG_012174.1:g.7836_7841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.-38-24_-38-19del	ENSP00000419303.2:n.-38-24_-38-19del
ENST00000480644.2:c.173-24_173-19del	ENSP00000420229.2:n.173-24_173-19del
ENST00000492644.2:n.187-24_187-19del
ENST00000684961.1:c.-42-1306_-42-1301del	ENSP00000508439.1:n.-42-1306_-42-1301del
ENST00000686433.1:c.173-24_173-19del	ENSP00000509173.1:n.173-24_173-19del
ENST00000687538.1:c.-38-24_-38-19del	ENSP00000508887.1:n.-38-24_-38-19del
ENST00000688697.1:c.173-24_173-19del	ENSP00000510396.1:n.173-24_173-19del
ENST00000689286.1:c.-38-24_-38-19del	ENSP00000509897.1:n.-38-24_-38-19del
ENST00000689925.1:c.-38-24_-38-19del	ENSP00000510082.1:n.-38-24_-38-19del
ENST00000690298.1:c.173-1306_173-1301del	ENSP00000509376.1:n.173-1306_173-1301del
ENST00000691070.1:c.173-24_173-19del	ENSP00000509723.1:n.173-24_173-19del
ENST00000692727.1:n.187-24_187-19del
ENST00000693155.1:n.196-24_196-19del
ENST00000310776.9:c.173-27_173-22del	ENSP00000310785.5:n.173-27_173-22del
ENST00000680020.1:c.173-24_173-19del MANE Select	ENSP00000505414.1:n.173-24_173-19del
ENST00000310776.8:c.173-24_173-19del	ENSP00000310785.4:n.173-24_173-19del
ENST00000465056.5:c.173-27_173-22del	ENSP00000418233.1:n.173-27_173-22del
ENST00000465373.5:c.164_169del	ENSP00000419920.1:p.Ser55_Tyr56del
ENST00000466690.5:c.159-24_159-19del
ENST00000478464.5:c.50-24_50-19del	ENSP00000419303.1:n.50-24_50-19del
ENST00000480938.5:n.173-24_173-19del
ENST00000486705.1:n.84-24_84-19del
ENST00000495075.5:c.173-24_173-19del	ENSP00000418008.1:n.173-24_173-19del
ENST00000495225.1:c.83-24_83-19del	ENSP00000417104.1:n.83-24_83-19del
ENST00000498505.5:c.173-27_173-22del	ENSP00000420482.1:n.173-27_173-22del
NM_020191.2:c.173-24_173-19del	NP_064576.1:n.173-24_173-19del
XM_005247640.2:c.173-27_173-22del	XP_005247697.1:n.173-27_173-22del
XM_006713703.2:c.173-24_173-19del	XP_006713766.1:n.173-24_173-19del
XM_011512995.1:c.50-24_50-19del	XP_011511297.1:n.50-24_50-19del
XM_011512996.1:c.50-27_50-22del	XP_011511298.1:n.50-27_50-22del
NM_001363857.1:c.50-24_50-19del	NP_001350786.1:n.50-24_50-19del
NM_001363893.1:c.173-27_173-22del	NP_001350822.1:n.173-27_173-22del
NM_020191.3:c.173-24_173-19del	NP_064576.1:n.173-24_173-19del
XM_006713703.4:c.173-24_173-19del	XP_006713766.1:n.173-24_173-19del
XM_011512996.2:c.50-27_50-22del	XP_011511298.1:n.50-27_50-22del
NM_020191.4:c.173-24_173-19del MANE Select	NP_064576.1:n.173-24_173-19del