Canonical Allele Identifier: CA627600281

Gene: METTL23

Linked Data

• dbSNP Id: rs1568016294
• gnomAD v2: 17-74729458-AG-A
• gnomAD v4: 17-76733376-AG-A
• MyVariant Identifiers: chr17:g.74729459del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76733378del , CM000679.2:g.76733378del	GRCh38
NC_000017.10:g.74729460del , CM000679.1:g.74729460del	GRCh37
NC_000017.9:g.72241055del	NCBI36
NG_032905.1:g.9035del , LRG_640:g.9035del
NG_041790.1:g.11549del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341249.11:c.407+1del
ENST00000341249.10:c.407+1del
ENST00000586200.1:c.50+1del
ENST00000586738.5:c.408del	ENSP00000468386.1:p.Arg136SerfsTer?
ENST00000586752.5:c.206+1del
ENST00000587459.1:c.238+163del	ENSP00000466829.1:n.238+163del
ENST00000588302.5:c.207del	ENSP00000468704.1:p.Arg69SerfsTer?
ENST00000588563.5:c.407+1del
ENST00000588783.5:c.408del	ENSP00000466938.1:p.Arg136SerfsTer?
ENST00000588822.1:c.206+1del
ENST00000589581.1:n.503+1del
ENST00000589977.5:c.408del	ENSP00000464965.1:p.Arg136SerfsTer5
ENST00000590964.5:c.206+1del
ENST00000591571.5:c.207del	ENSP00000466614.1:p.Arg69SerfsTer5
ENST00000592849.5:c.407+1del
ENST00000615984.4:c.407+1del
NM_001080510.4:c.407+1del
NM_001206983.2:c.407+1del
NM_001206984.2:c.407+1del
NM_001206985.2:c.206+1del
NM_001206986.2:c.206+1del
NM_001206987.2:c.206+1del
NM_001302703.1:c.407+1del
NM_001302704.1:c.206+1del
NM_001302705.1:c.395+1del
NR_038193.2:n.434+1del
XM_006721673.2:c.443+1del
XM_006721674.2:c.407+1del
XM_006721675.1:c.395+1del
XM_006721676.2:c.395+1del
XM_006721678.2:c.395+1del
XM_006721679.2:c.374+1del
XM_006721680.2:c.206+1del
XM_011524282.1:c.395+1del
XM_006721674.3:c.407+1del
XM_006721676.3:c.395+1del
XM_006721678.4:c.395+1del
XM_006721679.3:c.374+1del
XM_017024145.2:c.396del	XP_016879634.1:p.Arg132SerfsTer5
XM_017024146.1:c.479+1del
XM_024450563.1:c.*125del	XP_024306331.1:n.*125del
NM_001080510.5:c.407+1del
NM_001206983.3:c.407+1del
NM_001206984.3:c.407+1del
NM_001206985.3:c.206+1del
NM_001206986.3:c.206+1del
NM_001206987.3:c.206+1del
NM_001302703.2:c.407+1del
NM_001302704.2:c.206+1del
NM_001302705.2:c.395+1del
NM_001378348.1:c.407+1del
NM_001378349.1:c.407+1del
NM_001378350.1:c.395+1del
NM_001378351.1:c.395+1del
NM_001378352.1:c.395+1del
NM_001378353.1:c.395+1del
NM_001378354.1:c.206+1del