Canonical Allele Identifier: CA240314927

Gene: METTL25

Linked Data

• dbSNP Id: rs996745374
• gnomAD v3: 12-82359038-GTCCACAATT-G
• gnomAD v4: 12-82359038-GTCCACAATT-G
• MyVariant Identifiers: chr12:g.82752818_82752826del (hg19) ; chr12:g.82359039_82359047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.82359040_82359048del , CM000674.2:g.82359040_82359048del	GRCh38
NC_000012.11:g.82752819_82752827del , CM000674.1:g.82752819_82752827del	GRCh37
NC_000012.10:g.81276950_81276958del	NCBI36
NG_053173.1:g.5635_5643del
NG_053173.2:g.5635_5643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248306.8:c.259+216_259+224del MANE Select	ENSP00000248306.3:n.259+216_259+224del
ENST00000248306.7:c.259+216_259+224del	ENSP00000248306.3:n.259+216_259+224del
ENST00000547357.5:n.296+216_296+224del
ENST00000547985.1:n.388+124_388+132del
ENST00000548200.5:c.259+216_259+224del	ENSP00000446878.1:n.259+216_259+224del
ENST00000548569.5:n.297+216_297+224del
ENST00000550058.1:c.23+124_23+132del
NM_032230.2:c.259+216_259+224del	NP_115606.2:n.259+216_259+224del
XM_005269184.2:c.259+216_259+224del	XP_005269241.1:n.259+216_259+224del
XM_005269186.3:c.259+216_259+224del	XP_005269243.2:n.259+216_259+224del
XM_006719636.2:c.-3+124_-3+132del	XP_006719699.1:n.-3+124_-3+132del
XM_006719637.2:c.259+216_259+224del	XP_006719700.1:n.259+216_259+224del
XM_011538827.1:c.259+216_259+224del	XP_011537129.1:n.259+216_259+224del
XM_011538828.1:c.259+216_259+224del	XP_011537130.1:n.259+216_259+224del
XM_011538829.1:c.259+216_259+224del	XP_011537131.1:n.259+216_259+224del
XM_011538830.1:c.259+216_259+224del	XP_011537132.1:n.259+216_259+224del
XR_944768.1:n.419+216_419+224del
XR_944769.1:n.419+216_419+224del
NM_001319675.1:c.-3+124_-3+132del	NP_001306604.1:n.-3+124_-3+132del
NM_001347934.1:c.-72+216_-72+224del	NP_001334863.1:n.-72+216_-72+224del
NR_144940.1:n.328+216_328+224del
NR_144941.1:n.328+216_328+224del
NR_144942.1:n.420+124_420+132del
NR_144943.1:n.420+124_420+132del
XM_005269186.5:c.259+216_259+224del	XP_005269243.2:n.259+216_259+224del
XM_011538827.3:c.259+216_259+224del	XP_011537129.1:n.259+216_259+224del
XM_011538828.3:c.259+216_259+224del	XP_011537130.1:n.259+216_259+224del
XM_011538829.3:c.259+216_259+224del	XP_011537131.1:n.259+216_259+224del
XM_017020021.1:c.-1206+216_-1206+224del	XP_016875510.1:n.-1206+216_-1206+224del
XR_001748891.2:n.325+216_325+224del
XR_001748893.2:n.325+216_325+224del
XR_001748894.2:n.325+216_325+224del
XR_001748895.2:n.325+216_325+224del
XR_001748897.2:n.325+216_325+224del
XR_001748898.2:n.325+216_325+224del
XR_944768.3:n.325+216_325+224del
NM_032230.3:c.259+216_259+224del MANE Select	NP_115606.2:n.259+216_259+224del
NM_001319675.2:c.-3+124_-3+132del	NP_001306604.1:n.-3+124_-3+132del
NM_001347934.2:c.-72+216_-72+224del	NP_001334863.1:n.-72+216_-72+224del
NR_144940.2:n.296+216_296+224del
NR_144941.2:n.296+216_296+224del
NR_144942.2:n.388+124_388+132del
NR_144943.2:n.388+124_388+132del