Canonical Allele Identifier: CA2640797

Gene: MRPS22

Linked Data

• dbSNP Id: rs760001673
• ExAC: 3:139071443 ACTT / A
• gnomAD v2: 3-139071443-ACTT-A
• gnomAD v4: 3-139352601-ACTT-A
• MyVariant Identifiers: chr3:g.139071444_139071446del (hg19) ; chr3:g.139352602_139352604del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352605_139352607del , CM000665.2:g.139352605_139352607del	GRCh38
NC_000003.11:g.139071447_139071449del , CM000665.1:g.139071447_139071449del	GRCh37
NC_000003.10:g.140554137_140554139del	NCBI36
NG_012174.1:g.13587_13589del

Transcript Alleles

HGVS	Amino-acid change
ENST00000478464.6:c.523-42_523-40del	ENSP00000419303.2:n.523-42_523-40del
ENST00000480644.2:c.649-42_649-40del	ENSP00000420229.2:n.649-42_649-40del
ENST00000492644.2:n.2945_2947del
ENST00000684961.1:c.352-42_352-40del	ENSP00000508439.1:n.352-42_352-40del
ENST00000686433.1:c.679-42_679-40del	ENSP00000509173.1:n.679-42_679-40del
ENST00000687538.1:c.523-42_523-40del	ENSP00000508887.1:n.523-42_523-40del
ENST00000688697.1:c.733-42_733-40del	ENSP00000510396.1:n.733-42_733-40del
ENST00000689286.1:c.523-42_523-40del	ENSP00000509897.1:n.523-42_523-40del
ENST00000689925.1:c.*74-42_*74-40del	ENSP00000510082.1:n.*74-42_*74-40del
ENST00000690298.1:c.*374-42_*374-40del	ENSP00000509376.1:n.*374-42_*374-40del
ENST00000691070.1:c.649-42_649-40del	ENSP00000509723.1:n.649-42_649-40del
ENST00000692727.1:n.3255-42_3255-40del
ENST00000693155.1:n.1410-42_1410-40del
ENST00000310776.9:c.730-42_730-40del	ENSP00000310785.5:n.730-42_730-40del
ENST00000680020.1:c.733-42_733-40del MANE Select	ENSP00000505414.1:n.733-42_733-40del
ENST00000310776.8:c.733-42_733-40del	ENSP00000310785.4:n.733-42_733-40del
ENST00000465056.5:c.730-42_730-40del	ENSP00000418233.1:n.730-42_730-40del
ENST00000478464.5:c.610-42_610-40del	ENSP00000419303.1:n.610-42_610-40del
ENST00000480644.1:c.218-42_218-40del
ENST00000480938.5:n.1387-42_1387-40del
ENST00000492644.1:n.1736_1738del
ENST00000495075.5:c.733-42_733-40del	ENSP00000418008.1:n.733-42_733-40del
ENST00000498505.5:c.*330-42_*330-40del	ENSP00000420482.1:n.*330-42_*330-40del
NM_020191.2:c.733-42_733-40del	NP_064576.1:n.733-42_733-40del
XM_005247640.2:c.730-42_730-40del	XP_005247697.1:n.730-42_730-40del
XM_006713703.2:c.679-42_679-40del	XP_006713766.1:n.679-42_679-40del
XM_011512995.1:c.610-42_610-40del	XP_011511297.1:n.610-42_610-40del
XM_011512996.1:c.607-42_607-40del	XP_011511298.1:n.607-42_607-40del
NM_001363857.1:c.610-42_610-40del	NP_001350786.1:n.610-42_610-40del
NM_001363893.1:c.730-42_730-40del	NP_001350822.1:n.730-42_730-40del
NM_020191.3:c.733-42_733-40del	NP_064576.1:n.733-42_733-40del
XM_006713703.4:c.679-42_679-40del	XP_006713766.1:n.679-42_679-40del
XM_011512996.2:c.607-42_607-40del	XP_011511298.1:n.607-42_607-40del
NM_020191.4:c.733-42_733-40del MANE Select	NP_064576.1:n.733-42_733-40del