Canonical Allele Identifier: CA1143355037

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791220_11791221delinsAA , CM000663.2:g.11791220_11791221delinsAA	GRCh38
NC_000001.10:g.11851277_11851278delinsAA , CM000663.1:g.11851277_11851278delinsAA	GRCh37
NC_000001.9:g.11773864_11773865delinsAA	NCBI36
NG_013351.1:g.19883_19884delinsTT , LRG_726:g.19883_19884delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1861_1862delinsTT	ENSP00000365770.1:p.Phe621=
ENST00000376590.9:c.1738_1739delinsTT MANE Select	ENSP00000365775.3:p.Phe580=
ENST00000376592.6:c.1738_1739delinsTT	ENSP00000365777.1:p.Phe580=
ENST00000423400.7:c.1858_1859delinsTT	ENSP00000398908.3:p.Phe620=
ENST00000641407.1:c.1738_1739delinsTT	ENSP00000493098.1:p.Phe580=
ENST00000641446.1:c.*197_*198delinsTT	ENSP00000493262.1:n.*197_*198delinsTT
ENST00000641747.1:c.*1250_*1251delinsTT	ENSP00000493116.1:n.*1250_*1251delinsTT
ENST00000641759.1:n.2107_2108delinsTT
ENST00000641805.1:n.2255_2256delinsTT
ENST00000641820.1:c.1003_1004delinsTT	ENSP00000492937.1:p.Phe335=
ENST00000376583.7:c.1861_1862delinsTT	ENSP00000365767.3:p.Phe621=
ENST00000376585.5:c.1861_1862delinsTT	ENSP00000365770.1:p.Phe621=
ENST00000376590.7:c.1738_1739delinsTT	ENSP00000365775.3:p.Phe580=
ENST00000376592.5:c.1738_1739delinsTT	ENSP00000365777.1:p.Phe580=
NM_005957.4:c.1738_1739delinsTT , LRG_726t1:c.1738_1739delinsTT	NP_005948.3:p.Phe580=
XM_005263458.2:c.1861_1862delinsTT	XP_005263515.1:p.Phe621=
XM_005263460.3:c.1738_1739delinsTT	XP_005263517.1:p.Phe580=
XM_005263461.3:c.1738_1739delinsTT	XP_005263518.1:p.Phe580=
XM_005263462.3:c.1738_1739delinsTT	XP_005263519.1:p.Phe580=
XM_005263463.2:c.1492_1493delinsTT	XP_005263520.1:p.Phe498=
XM_011541495.1:c.1858_1859delinsTT	XP_011539797.1:p.Phe620=
XM_011541496.1:c.1861_1862delinsTT	XP_011539798.1:p.Phe621=
NM_001330358.1:c.1861_1862delinsTT	NP_001317287.1:p.Phe621=
XM_005263460.5:c.1738_1739delinsTT	XP_005263517.1:p.Phe580=
XM_005263462.4:c.1738_1739delinsTT	XP_005263519.1:p.Phe580=
XM_005263463.4:c.1492_1493delinsTT	XP_005263520.1:p.Phe498=
XM_011541495.3:c.1858_1859delinsTT	XP_011539797.1:p.Phe620=
XM_011541496.3:c.1861_1862delinsTT	XP_011539798.1:p.Phe621=
XM_017001328.2:c.1861_1862delinsTT	XP_016856817.1:p.Phe621=
XM_024447198.1:c.1492_1493delinsTT	XP_024302966.1:p.Phe498=
XR_002956640.1:n.2839_2840delinsTT
NM_005957.5:c.1738_1739delinsTT MANE Select	NP_005948.3:p.Phe580=
NM_001330358.2:c.1861_1862delinsTT	NP_001317287.1:p.Phe621=