Canonical Allele Identifier: CA1153810817

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800262_11800266delinsACCAG , CM000663.2:g.11800262_11800266delinsACCAG	GRCh38
NC_000001.10:g.11860319_11860323delinsACCAG , CM000663.1:g.11860319_11860323delinsACCAG	GRCh37
NC_000001.9:g.11782906_11782910delinsACCAG	NCBI36
NG_013351.1:g.10838_10842delinsCTGGT , LRG_726:g.10838_10842delinsCTGGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.532_536delinsCTGGT	ENSP00000365669.3:p.Leu178=
ENST00000376585.6:c.655_659delinsCTGGT	ENSP00000365770.1:p.Leu219=
ENST00000376590.9:c.532_536delinsCTGGT MANE Select	ENSP00000365775.3:p.Leu178=
ENST00000376592.6:c.532_536delinsCTGGT	ENSP00000365777.1:p.Leu178=
ENST00000423400.7:c.652_656delinsCTGGT	ENSP00000398908.3:p.Leu218=
ENST00000641407.1:c.532_536delinsCTGGT	ENSP00000493098.1:p.Leu178=
ENST00000641437.1:n.1502_1506delinsCTGGT
ENST00000641446.1:c.532_536delinsCTGGT	ENSP00000493262.1:p.Leu178=
ENST00000641721.1:n.589_593delinsCTGGT
ENST00000641747.1:c.*44_*48delinsCTGGT	ENSP00000493116.1:n.*44_*48delinsCTGGT
ENST00000641759.1:n.667_671delinsCTGGT
ENST00000641805.1:n.815_819delinsCTGGT
ENST00000641909.1:n.1780_1784delinsCTGGT
ENST00000376583.7:c.655_659delinsCTGGT	ENSP00000365767.3:p.Leu219=
ENST00000376585.5:c.655_659delinsCTGGT	ENSP00000365770.1:p.Leu219=
ENST00000376590.7:c.532_536delinsCTGGT	ENSP00000365775.3:p.Leu178=
ENST00000376592.5:c.532_536delinsCTGGT	ENSP00000365777.1:p.Leu178=
NM_005957.4:c.532_536delinsCTGGT , LRG_726t1:c.532_536delinsCTGGT	NP_005948.3:p.Leu178=
XM_005263458.2:c.655_659delinsCTGGT	XP_005263515.1:p.Leu219=
XM_005263460.3:c.532_536delinsCTGGT	XP_005263517.1:p.Leu178=
XM_005263461.3:c.532_536delinsCTGGT	XP_005263518.1:p.Leu178=
XM_005263462.3:c.532_536delinsCTGGT	XP_005263519.1:p.Leu178=
XM_005263463.2:c.286_290delinsCTGGT	XP_005263520.1:p.Leu96=
XM_011541495.1:c.652_656delinsCTGGT	XP_011539797.1:p.Leu218=
XM_011541496.1:c.655_659delinsCTGGT	XP_011539798.1:p.Leu219=
NM_001330358.1:c.655_659delinsCTGGT	NP_001317287.1:p.Leu219=
XM_005263460.5:c.532_536delinsCTGGT	XP_005263517.1:p.Leu178=
XM_005263462.4:c.532_536delinsCTGGT	XP_005263519.1:p.Leu178=
XM_005263463.4:c.286_290delinsCTGGT	XP_005263520.1:p.Leu96=
XM_011541495.3:c.652_656delinsCTGGT	XP_011539797.1:p.Leu218=
XM_011541496.3:c.655_659delinsCTGGT	XP_011539798.1:p.Leu219=
XM_017001328.2:c.655_659delinsCTGGT	XP_016856817.1:p.Leu219=
XM_024447198.1:c.286_290delinsCTGGT	XP_024302966.1:p.Leu96=
XR_002956640.1:n.1399_1403delinsCTGGT
NM_005957.5:c.532_536delinsCTGGT MANE Select	NP_005948.3:p.Leu178=
NM_001330358.2:c.655_659delinsCTGGT	NP_001317287.1:p.Leu219=