Canonical Allele Identifier: CA8790112

Gene: METTL23

Linked Data

• ClinVar Variation Id: 520855
• ClinVar RCV Id: RCV000624880 ; RCV002060687 ; RCV003222062
• dbSNP Id: rs773937309
• ExAC: 17:74729247 TACC / T
• gnomAD v2: 17-74729247-TACC-T
• gnomAD v3: 17-76733165-TACC-T
• gnomAD v4: 17-76733165-TACC-T
• MyVariant Identifiers: chr17:g.74729253_74729255del (hg19) ; chr17:g.74729248_74729250del (hg19) ; chr17:g.76733171_76733173del (hg38) ; chr17:g.76733167_76733169del (hg38) ; chr17:g.76733166_76733168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76733171_76733173del , CM000679.2:g.76733171_76733173del	GRCh38
NC_000017.10:g.74729253_74729255del , CM000679.1:g.74729253_74729255del	GRCh37
NC_000017.9:g.72240848_72240850del	NCBI36
NG_032905.1:g.9244_9246del , LRG_640:g.9244_9246del
NG_041790.1:g.11342_11344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341249.11:c.278_280del MANE Select	ENSP00000341543.5:p.Pro93del
ENST00000341249.10:c.278_280del	ENSP00000341543.5:p.Pro93del
ENST00000586200.1:c.-35-122_-35-120del	ENSP00000465959.1:n.-35-122_-35-120del
ENST00000586738.5:c.278_280del	ENSP00000468386.1:p.Pro93del
ENST00000586752.5:c.77_79del	ENSP00000466203.1:p.Pro26del
ENST00000587459.1:c.194_196del	ENSP00000466829.1:p.Pro65del
ENST00000588302.5:c.77_79del	ENSP00000468704.1:p.Pro26del
ENST00000588563.5:c.278_280del	ENSP00000467503.1:p.Pro93del
ENST00000588783.5:c.278_280del	ENSP00000466938.1:p.Pro93del
ENST00000588822.1:c.77_79del	ENSP00000465430.1:p.Pro26del
ENST00000588964.1:c.77_79del	ENSP00000467101.1:p.Pro26del
ENST00000589581.1:n.297_299del
ENST00000589977.5:c.278_280del	ENSP00000464965.1:p.Pro93del
ENST00000590964.5:c.77_79del	ENSP00000465890.1:p.Pro26del
ENST00000591571.5:c.77_79del	ENSP00000466614.1:p.Pro26del
ENST00000592849.5:c.278_280del	ENSP00000467527.1:p.Pro93del
ENST00000615984.4:c.278_280del	ENSP00000482599.1:p.Pro93del
NM_001080510.4:c.278_280del	NP_001073979.3:p.Pro93del
NM_001206983.2:c.278_280del	NP_001193912.1:p.Pro93del
NM_001206984.2:c.278_280del	NP_001193913.1:p.Pro93del
NM_001206985.2:c.77_79del	NP_001193914.1:p.Pro26del
NM_001206986.2:c.77_79del	NP_001193915.1:p.Pro26del
NM_001206987.2:c.77_79del	NP_001193916.1:p.Pro26del
NM_001302703.1:c.278_280del	NP_001289632.1:p.Pro93del
NM_001302704.1:c.77_79del	NP_001289633.1:p.Pro26del
NM_001302705.1:c.266_268del	NP_001289634.1:p.Pro89del
NR_038193.2:n.350-122_350-120del
XM_006721673.2:c.314_316del	XP_006721736.1:p.Pro105del
XM_006721674.2:c.278_280del	XP_006721737.1:p.Pro93del
XM_006721675.1:c.266_268del	XP_006721738.1:p.Pro89del
XM_006721676.2:c.266_268del	XP_006721739.1:p.Pro89del
XM_006721678.2:c.266_268del	XP_006721741.1:p.Pro89del
XM_006721679.2:c.245_247del	XP_006721742.1:p.Pro82del
XM_006721680.2:c.77_79del	XP_006721743.1:p.Pro26del
XM_011524282.1:c.266_268del	XP_011522584.1:p.Pro89del
XM_006721674.3:c.278_280del	XP_006721737.1:p.Pro93del
XM_006721676.3:c.266_268del	XP_006721739.1:p.Pro89del
XM_006721678.4:c.266_268del	XP_006721741.1:p.Pro89del
XM_006721679.3:c.245_247del	XP_006721742.1:p.Pro82del
XM_017024145.2:c.266_268del	XP_016879634.1:p.Pro89del
XM_017024146.1:c.350_352del	XP_016879635.1:p.Pro117del
XM_024450563.1:c.278_280del	XP_024306331.1:p.Pro93del
NM_001080510.5:c.278_280del MANE Select	NP_001073979.3:p.Pro93del
NM_001206983.3:c.278_280del	NP_001193912.1:p.Pro93del
NM_001206984.3:c.278_280del	NP_001193913.1:p.Pro93del
NM_001206985.3:c.77_79del	NP_001193914.1:p.Pro26del
NM_001206986.3:c.77_79del	NP_001193915.1:p.Pro26del
NM_001206987.3:c.77_79del	NP_001193916.1:p.Pro26del
NM_001302703.2:c.278_280del	NP_001289632.1:p.Pro93del
NM_001302704.2:c.77_79del	NP_001289633.1:p.Pro26del
NM_001302705.2:c.266_268del	NP_001289634.1:p.Pro89del
NM_001378348.1:c.278_280del	NP_001365277.1:p.Pro93del
NM_001378349.1:c.278_280del	NP_001365278.1:p.Pro93del
NM_001378350.1:c.266_268del	NP_001365279.1:p.Pro89del
NM_001378351.1:c.266_268del	NP_001365280.1:p.Pro89del
NM_001378352.1:c.266_268del	NP_001365281.1:p.Pro89del
NM_001378353.1:c.266_268del	NP_001365282.1:p.Pro89del
NM_001378354.1:c.77_79del	NP_001365283.1:p.Pro26del