Canonical Allele Identifier: CA627600249

Gene: METTL23

Linked Data

• ClinVar Variation Id: 520640
• ClinVar RCV Id: RCV000624747
• dbSNP Id: rs1382444181
• gnomAD v2: 17-74729151-TG-T
• gnomAD v3: 17-76733069-TG-T
• gnomAD v4: 17-76733069-TG-T
• MyVariant Identifiers: chr17:g.74729153del (hg19) ; chr17:g.74729152del (hg19) ; chr17:g.76733071del (hg38) ; chr17:g.76733070del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76733071del , CM000679.2:g.76733071del	GRCh38
NC_000017.10:g.74729153del , CM000679.1:g.74729153del	GRCh37
NC_000017.9:g.72240748del	NCBI36
NG_032905.1:g.9342del , LRG_640:g.9342del
NG_041790.1:g.11242del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341249.11:c.178del MANE Select	ENSP00000341543.5:p.Glu60LysfsTer9
ENST00000341249.10:c.178del	ENSP00000341543.5:p.Glu60LysfsTer9
ENST00000586200.1:c.-35-222del	ENSP00000465959.1:n.-35-222del
ENST00000586738.5:c.178del	ENSP00000468386.1:p.Glu60LysfsTer9
ENST00000586752.5:c.-24del	ENSP00000466203.1:n.-24del
ENST00000587459.1:c.94del	ENSP00000466829.1:p.Glu32LysfsTer9
ENST00000588302.5:c.-24del	ENSP00000468704.1:n.-24del
ENST00000588563.5:c.178del	ENSP00000467503.1:p.Glu60LysfsTer9
ENST00000588783.5:c.178del	ENSP00000466938.1:p.Glu60LysfsTer9
ENST00000588822.1:c.-24del	ENSP00000465430.1:n.-24del
ENST00000588964.1:c.-24del	ENSP00000467101.1:n.-24del
ENST00000589581.1:n.197del
ENST00000589977.5:c.178del	ENSP00000464965.1:p.Glu60LysfsTer9
ENST00000590964.5:c.-24del	ENSP00000465890.1:n.-24del
ENST00000591571.5:c.-24del	ENSP00000466614.1:n.-24del
ENST00000592849.5:c.178del	ENSP00000467527.1:p.Glu60LysfsTer9
ENST00000615984.4:c.178del	ENSP00000482599.1:p.Glu60LysfsTer9
NM_001080510.4:c.178del	NP_001073979.3:p.Glu60LysfsTer9
NM_001206983.2:c.178del	NP_001193912.1:p.Glu60LysfsTer9
NM_001206984.2:c.178del	NP_001193913.1:p.Glu60LysfsTer9
NM_001206985.2:c.-24del	NP_001193914.1:n.-24del
NM_001206986.2:c.-24del	NP_001193915.1:n.-24del
NM_001206987.2:c.-24del	NP_001193916.1:n.-24del
NM_001302703.1:c.178del	NP_001289632.1:p.Glu60LysfsTer9
NM_001302704.1:c.-24del	NP_001289633.1:n.-24del
NM_001302705.1:c.166del	NP_001289634.1:p.Glu56LysfsTer9
NR_038193.2:n.350-222del
XM_006721673.2:c.214del	XP_006721736.1:p.Glu72LysfsTer9
XM_006721674.2:c.178del	XP_006721737.1:p.Glu60LysfsTer9
XM_006721675.1:c.166del	XP_006721738.1:p.Glu56LysfsTer9
XM_006721676.2:c.166del	XP_006721739.1:p.Glu56LysfsTer9
XM_006721678.2:c.166del	XP_006721741.1:p.Glu56LysfsTer9
XM_006721679.2:c.145del	XP_006721742.1:p.Glu49LysfsTer9
XM_006721680.2:c.-24del	XP_006721743.1:n.-24del
XM_011524282.1:c.166del	XP_011522584.1:p.Glu56LysfsTer9
XM_006721674.3:c.178del	XP_006721737.1:p.Glu60LysfsTer9
XM_006721676.3:c.166del	XP_006721739.1:p.Glu56LysfsTer9
XM_006721678.4:c.166del	XP_006721741.1:p.Glu56LysfsTer9
XM_006721679.3:c.145del	XP_006721742.1:p.Glu49LysfsTer9
XM_017024145.2:c.166del	XP_016879634.1:p.Glu56LysfsTer9
XM_017024146.1:c.250del	XP_016879635.1:p.Glu84LysfsTer9
XM_024450563.1:c.178del	XP_024306331.1:p.Glu60LysfsTer9
NM_001080510.5:c.178del MANE Select	NP_001073979.3:p.Glu60LysfsTer9
NM_001206983.3:c.178del	NP_001193912.1:p.Glu60LysfsTer9
NM_001206984.3:c.178del	NP_001193913.1:p.Glu60LysfsTer9
NM_001206985.3:c.-24del	NP_001193914.1:n.-24del
NM_001206986.3:c.-24del	NP_001193915.1:n.-24del
NM_001206987.3:c.-24del	NP_001193916.1:n.-24del
NM_001302703.2:c.178del	NP_001289632.1:p.Glu60LysfsTer9
NM_001302704.2:c.-24del	NP_001289633.1:n.-24del
NM_001302705.2:c.166del	NP_001289634.1:p.Glu56LysfsTer9
NM_001378348.1:c.178del	NP_001365277.1:p.Glu60LysfsTer9
NM_001378349.1:c.178del	NP_001365278.1:p.Glu60LysfsTer9
NM_001378350.1:c.166del	NP_001365279.1:p.Glu56LysfsTer9
NM_001378351.1:c.166del	NP_001365280.1:p.Glu56LysfsTer9
NM_001378352.1:c.166del	NP_001365281.1:p.Glu56LysfsTer9
NM_001378353.1:c.166del	NP_001365282.1:p.Glu56LysfsTer9
NM_001378354.1:c.-24del	NP_001365283.1:n.-24del