Canonical Allele Identifier: CA1153812613

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801189_11801190delinsGC , CM000663.2:g.11801189_11801190delinsGC	GRCh38
NC_000001.10:g.11861246_11861247delinsGC , CM000663.1:g.11861246_11861247delinsGC	GRCh37
NC_000001.9:g.11783833_11783834delinsGC	NCBI36
NG_008766.1:g.40_41delinsGC
NG_013351.1:g.9914_9915delinsGC , LRG_726:g.9914_9915delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.446_447delinsGC	ENSP00000365669.3:p.Gly149=
ENST00000376585.6:c.569_570delinsGC	ENSP00000365770.1:p.Gly190=
ENST00000376590.9:c.446_447delinsGC MANE Select	ENSP00000365775.3:p.Gly149=
ENST00000376592.6:c.446_447delinsGC	ENSP00000365777.1:p.Gly149=
ENST00000423400.7:c.566_567delinsGC	ENSP00000398908.3:p.Gly189=
ENST00000641407.1:c.446_447delinsGC	ENSP00000493098.1:p.Gly149=
ENST00000641437.1:n.578_579delinsGC
ENST00000641446.1:c.446_447delinsGC	ENSP00000493262.1:p.Gly149=
ENST00000641721.1:n.503_504delinsGC
ENST00000641747.1:c.237-868_237-867delinsGC	ENSP00000493116.1:n.237-868_237-867delinsGC
ENST00000641759.1:n.581_582delinsGC
ENST00000641805.1:n.729_730delinsGC
ENST00000641909.1:n.856_857delinsGC
ENST00000376583.7:c.569_570delinsGC	ENSP00000365767.3:p.Gly190=
ENST00000376585.5:c.569_570delinsGC	ENSP00000365770.1:p.Gly190=
ENST00000376590.7:c.446_447delinsGC	ENSP00000365775.3:p.Gly149=
ENST00000376592.5:c.446_447delinsGC	ENSP00000365777.1:p.Gly149=
NM_005957.4:c.446_447delinsGC , LRG_726t1:c.446_447delinsGC	NP_005948.3:p.Gly149=
XM_005263458.2:c.569_570delinsGC	XP_005263515.1:p.Gly190=
XM_005263460.3:c.446_447delinsGC	XP_005263517.1:p.Gly149=
XM_005263461.3:c.446_447delinsGC	XP_005263518.1:p.Gly149=
XM_005263462.3:c.446_447delinsGC	XP_005263519.1:p.Gly149=
XM_005263463.2:c.200_201delinsGC	XP_005263520.1:p.Gly67=
XM_011541495.1:c.566_567delinsGC	XP_011539797.1:p.Gly189=
XM_011541496.1:c.569_570delinsGC	XP_011539798.1:p.Gly190=
NM_001330358.1:c.569_570delinsGC	NP_001317287.1:p.Gly190=
XM_005263460.5:c.446_447delinsGC	XP_005263517.1:p.Gly149=
XM_005263462.4:c.446_447delinsGC	XP_005263519.1:p.Gly149=
XM_005263463.4:c.200_201delinsGC	XP_005263520.1:p.Gly67=
XM_011541495.3:c.566_567delinsGC	XP_011539797.1:p.Gly189=
XM_011541496.3:c.569_570delinsGC	XP_011539798.1:p.Gly190=
XM_017001328.2:c.569_570delinsGC	XP_016856817.1:p.Gly190=
XM_024447198.1:c.200_201delinsGC	XP_024302966.1:p.Gly67=
XR_002956640.1:n.1313_1314delinsGC
NM_005957.5:c.446_447delinsGC MANE Select	NP_005948.3:p.Gly149=
NM_001330358.2:c.569_570delinsGC	NP_001317287.1:p.Gly190=