Canonical Allele Identifier: CA1153807699

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802050_11802051delinsAT , CM000663.2:g.11802050_11802051delinsAT	GRCh38
NC_000001.10:g.11862107_11862108delinsAT , CM000663.1:g.11862107_11862108delinsAT	GRCh37
NC_000001.9:g.11784694_11784695delinsAT	NCBI36
NG_008766.1:g.901_902delinsAT
NG_013351.1:g.9053_9054delinsAT , LRG_726:g.9053_9054delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.237-652_237-651delinsAT	ENSP00000365669.3:n.237-652_237-651delinsAT
ENST00000376585.6:c.360-652_360-651delinsAT	ENSP00000365770.1:n.360-652_360-651delinsAT
ENST00000376590.9:c.237-652_237-651delinsAT MANE Select	ENSP00000365775.3:n.237-652_237-651delinsAT
ENST00000376592.6:c.237-652_237-651delinsAT	ENSP00000365777.1:n.237-652_237-651delinsAT
ENST00000423400.7:c.357-652_357-651delinsAT	ENSP00000398908.3:n.357-652_357-651delinsAT
ENST00000431243.6:n.1018-635_1018-634delinsAT
ENST00000641407.1:c.237-652_237-651delinsAT	ENSP00000493098.1:n.237-652_237-651delinsAT
ENST00000641437.1:n.369-652_369-651delinsAT
ENST00000641446.1:c.237-652_237-651delinsAT	ENSP00000493262.1:n.237-652_237-651delinsAT
ENST00000641721.1:n.294-652_294-651delinsAT
ENST00000641747.1:c.236+830_236+831delinsAT	ENSP00000493116.1:n.236+830_236+831delinsAT
ENST00000641759.1:n.372-652_372-651delinsAT
ENST00000641805.1:n.520-652_520-651delinsAT
ENST00000641909.1:n.647-652_647-651delinsAT
ENST00000642002.1:n.466-635_466-634delinsAT
ENST00000376583.7:c.360-652_360-651delinsAT	ENSP00000365767.3:n.360-652_360-651delinsAT
ENST00000376585.5:c.360-652_360-651delinsAT	ENSP00000365770.1:n.360-652_360-651delinsAT
ENST00000376590.7:c.237-652_237-651delinsAT	ENSP00000365775.3:n.237-652_237-651delinsAT
ENST00000376592.5:c.237-652_237-651delinsAT	ENSP00000365777.1:n.237-652_237-651delinsAT
ENST00000418034.1:c.237-652_237-651delinsAT	ENSP00000405082.1:n.237-652_237-651delinsAT
NM_005957.4:c.237-652_237-651delinsAT , LRG_726t1:c.237-652_237-651delinsAT	NP_005948.3:n.237-652_237-651delinsAT
XM_005263458.2:c.360-652_360-651delinsAT	XP_005263515.1:n.360-652_360-651delinsAT
XM_005263460.3:c.237-652_237-651delinsAT	XP_005263517.1:n.237-652_237-651delinsAT
XM_005263461.3:c.237-652_237-651delinsAT	XP_005263518.1:n.237-652_237-651delinsAT
XM_005263462.3:c.237-652_237-651delinsAT	XP_005263519.1:n.237-652_237-651delinsAT
XM_005263463.2:c.-27-635_-27-634delinsAT	XP_005263520.1:n.-27-635_-27-634delinsAT
XM_011541495.1:c.357-652_357-651delinsAT	XP_011539797.1:n.357-652_357-651delinsAT
XM_011541496.1:c.360-652_360-651delinsAT	XP_011539798.1:n.360-652_360-651delinsAT
NM_001330358.1:c.360-652_360-651delinsAT	NP_001317287.1:n.360-652_360-651delinsAT
XM_005263460.5:c.237-652_237-651delinsAT	XP_005263517.1:n.237-652_237-651delinsAT
XM_005263462.4:c.237-652_237-651delinsAT	XP_005263519.1:n.237-652_237-651delinsAT
XM_005263463.4:c.-27-635_-27-634delinsAT	XP_005263520.1:n.-27-635_-27-634delinsAT
XM_011541495.3:c.357-652_357-651delinsAT	XP_011539797.1:n.357-652_357-651delinsAT
XM_011541496.3:c.360-652_360-651delinsAT	XP_011539798.1:n.360-652_360-651delinsAT
XM_017001328.2:c.360-652_360-651delinsAT	XP_016856817.1:n.360-652_360-651delinsAT
XM_024447198.1:c.-27-635_-27-634delinsAT	XP_024302966.1:n.-27-635_-27-634delinsAT
XR_002956640.1:n.1104-652_1104-651delinsAT
NM_005957.5:c.237-652_237-651delinsAT MANE Select	NP_005948.3:n.237-652_237-651delinsAT
NM_001330358.2:c.360-652_360-651delinsAT	NP_001317287.1:n.360-652_360-651delinsAT