Canonical Allele Identifier: CA1153810523

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800106_11800110delinsATGAG , CM000663.2:g.11800106_11800110delinsATGAG	GRCh38
NC_000001.10:g.11860163_11860167delinsATGAG , CM000663.1:g.11860163_11860167delinsATGAG	GRCh37
NC_000001.9:g.11782750_11782754delinsATGAG	NCBI36
NG_013351.1:g.10994_10998delinsCTCAT , LRG_726:g.10994_10998delinsCTCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.586+102_586+106delinsCTCAT	ENSP00000365669.3:n.586+102_586+106delinsCTCAT
ENST00000376585.6:c.709+102_709+106delinsCTCAT	ENSP00000365770.1:n.709+102_709+106delinsCTCAT
ENST00000376590.9:c.586+102_586+106delinsCTCAT MANE Select	ENSP00000365775.3:n.586+102_586+106delinsCTCAT
ENST00000376592.6:c.586+102_586+106delinsCTCAT	ENSP00000365777.1:n.586+102_586+106delinsCTCAT
ENST00000423400.7:c.706+102_706+106delinsCTCAT	ENSP00000398908.3:n.706+102_706+106delinsCTCAT
ENST00000641407.1:c.586+102_586+106delinsCTCAT	ENSP00000493098.1:n.586+102_586+106delinsCTCAT
ENST00000641437.1:n.1658_1662delinsCTCAT
ENST00000641446.1:c.586+102_586+106delinsCTCAT	ENSP00000493262.1:n.586+102_586+106delinsCTCAT
ENST00000641721.1:n.643+102_643+106delinsCTCAT
ENST00000641747.1:c.*98+102_*98+106delinsCTCAT	ENSP00000493116.1:n.*98+102_*98+106delinsCTCAT
ENST00000641759.1:n.721+102_721+106delinsCTCAT
ENST00000641805.1:n.869+102_869+106delinsCTCAT
ENST00000641909.1:n.1936_1940delinsCTCAT
ENST00000376583.7:c.709+102_709+106delinsCTCAT	ENSP00000365767.3:n.709+102_709+106delinsCTCAT
ENST00000376585.5:c.709+102_709+106delinsCTCAT	ENSP00000365770.1:n.709+102_709+106delinsCTCAT
ENST00000376590.7:c.586+102_586+106delinsCTCAT	ENSP00000365775.3:n.586+102_586+106delinsCTCAT
ENST00000376592.5:c.586+102_586+106delinsCTCAT	ENSP00000365777.1:n.586+102_586+106delinsCTCAT
NM_005957.4:c.586+102_586+106delinsCTCAT , LRG_726t1:c.586+102_586+106delinsCTCAT	NP_005948.3:n.586+102_586+106delinsCTCAT
XM_005263458.2:c.709+102_709+106delinsCTCAT	XP_005263515.1:n.709+102_709+106delinsCTCAT
XM_005263460.3:c.586+102_586+106delinsCTCAT	XP_005263517.1:n.586+102_586+106delinsCTCAT
XM_005263461.3:c.586+102_586+106delinsCTCAT	XP_005263518.1:n.586+102_586+106delinsCTCAT
XM_005263462.3:c.586+102_586+106delinsCTCAT	XP_005263519.1:n.586+102_586+106delinsCTCAT
XM_005263463.2:c.340+102_340+106delinsCTCAT	XP_005263520.1:n.340+102_340+106delinsCTCAT
XM_011541495.1:c.706+102_706+106delinsCTCAT	XP_011539797.1:n.706+102_706+106delinsCTCAT
XM_011541496.1:c.709+102_709+106delinsCTCAT	XP_011539798.1:n.709+102_709+106delinsCTCAT
NM_001330358.1:c.709+102_709+106delinsCTCAT	NP_001317287.1:n.709+102_709+106delinsCTCAT
XM_005263460.5:c.586+102_586+106delinsCTCAT	XP_005263517.1:n.586+102_586+106delinsCTCAT
XM_005263462.4:c.586+102_586+106delinsCTCAT	XP_005263519.1:n.586+102_586+106delinsCTCAT
XM_005263463.4:c.340+102_340+106delinsCTCAT	XP_005263520.1:n.340+102_340+106delinsCTCAT
XM_011541495.3:c.706+102_706+106delinsCTCAT	XP_011539797.1:n.706+102_706+106delinsCTCAT
XM_011541496.3:c.709+102_709+106delinsCTCAT	XP_011539798.1:n.709+102_709+106delinsCTCAT
XM_017001328.2:c.709+102_709+106delinsCTCAT	XP_016856817.1:n.709+102_709+106delinsCTCAT
XM_024447198.1:c.340+102_340+106delinsCTCAT	XP_024302966.1:n.340+102_340+106delinsCTCAT
XR_002956640.1:n.1453+102_1453+106delinsCTCAT
NM_005957.5:c.586+102_586+106delinsCTCAT MANE Select	NP_005948.3:n.586+102_586+106delinsCTCAT
NM_001330358.2:c.709+102_709+106delinsCTCAT	NP_001317287.1:n.709+102_709+106delinsCTCAT