Canonical Allele Identifier: CA1153794556

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792367_11792369delinsACT , CM000663.2:g.11792367_11792369delinsACT	GRCh38
NC_000001.10:g.11852424_11852426delinsACT , CM000663.1:g.11852424_11852426delinsACT	GRCh37
NC_000001.9:g.11775011_11775013delinsACT	NCBI36
NG_013351.1:g.18735_18737delinsAGT , LRG_726:g.18735_18737delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1664_1666delinsAGT	ENSP00000365770.1:p.Glu555=
ENST00000376590.9:c.1541_1543delinsAGT MANE Select	ENSP00000365775.3:p.Glu514=
ENST00000376592.6:c.1541_1543delinsAGT	ENSP00000365777.1:p.Glu514=
ENST00000423400.7:c.1661_1663delinsAGT	ENSP00000398908.3:p.Glu554=
ENST00000641407.1:c.1541_1543delinsAGT	ENSP00000493098.1:p.Glu514=
ENST00000641446.1:c.1541_1543delinsAGT	ENSP00000493262.1:p.Glu514=
ENST00000641747.1:c.*1053_*1055delinsAGT	ENSP00000493116.1:n.*1053_*1055delinsAGT
ENST00000641759.1:n.1910_1912delinsAGT
ENST00000641805.1:n.2058_2060delinsAGT
ENST00000641820.1:c.806_808delinsAGT	ENSP00000492937.1:p.Glu269=
ENST00000376583.7:c.1664_1666delinsAGT	ENSP00000365767.3:p.Glu555=
ENST00000376585.5:c.1664_1666delinsAGT	ENSP00000365770.1:p.Glu555=
ENST00000376590.7:c.1541_1543delinsAGT	ENSP00000365775.3:p.Glu514=
ENST00000376592.5:c.1541_1543delinsAGT	ENSP00000365777.1:p.Glu514=
NM_005957.4:c.1541_1543delinsAGT , LRG_726t1:c.1541_1543delinsAGT	NP_005948.3:p.Glu514=
XM_005263458.2:c.1664_1666delinsAGT	XP_005263515.1:p.Glu555=
XM_005263460.3:c.1541_1543delinsAGT	XP_005263517.1:p.Glu514=
XM_005263461.3:c.1541_1543delinsAGT	XP_005263518.1:p.Glu514=
XM_005263462.3:c.1541_1543delinsAGT	XP_005263519.1:p.Glu514=
XM_005263463.2:c.1295_1297delinsAGT	XP_005263520.1:p.Glu432=
XM_011541495.1:c.1661_1663delinsAGT	XP_011539797.1:p.Glu554=
XM_011541496.1:c.1664_1666delinsAGT	XP_011539798.1:p.Glu555=
NM_001330358.1:c.1664_1666delinsAGT	NP_001317287.1:p.Glu555=
XM_005263460.5:c.1541_1543delinsAGT	XP_005263517.1:p.Glu514=
XM_005263462.4:c.1541_1543delinsAGT	XP_005263519.1:p.Glu514=
XM_005263463.4:c.1295_1297delinsAGT	XP_005263520.1:p.Glu432=
XM_011541495.3:c.1661_1663delinsAGT	XP_011539797.1:p.Glu554=
XM_011541496.3:c.1664_1666delinsAGT	XP_011539798.1:p.Glu555=
XM_017001328.2:c.1664_1666delinsAGT	XP_016856817.1:p.Glu555=
XM_024447198.1:c.1295_1297delinsAGT	XP_024302966.1:p.Glu432=
XR_002956640.1:n.2642_2644delinsAGT
NM_005957.5:c.1541_1543delinsAGT MANE Select	NP_005948.3:p.Glu514=
NM_001330358.2:c.1664_1666delinsAGT	NP_001317287.1:p.Glu555=