Canonical Allele Identifier: CA1153792065

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791078_11791080delinsTGA , CM000663.2:g.11791078_11791080delinsTGA	GRCh38
NC_000001.10:g.11851135_11851137delinsTGA , CM000663.1:g.11851135_11851137delinsTGA	GRCh37
NC_000001.9:g.11773722_11773724delinsTGA	NCBI36
NG_013351.1:g.20024_20026delinsTCA , LRG_726:g.20024_20026delinsTCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1875+127_1875+129delinsTCA	ENSP00000365770.1:n.1875+127_1875+129delinsTCA
ENST00000376590.9:c.1752+127_1752+129delinsTCA MANE Select	ENSP00000365775.3:n.1752+127_1752+129delinsTCA
ENST00000376592.6:c.1752+127_1752+129delinsTCA	ENSP00000365777.1:n.1752+127_1752+129delinsTCA
ENST00000423400.7:c.1872+127_1872+129delinsTCA	ENSP00000398908.3:n.1872+127_1872+129delinsTCA
ENST00000641407.1:c.1752+127_1752+129delinsTCA	ENSP00000493098.1:n.1752+127_1752+129delinsTCA
ENST00000641446.1:c.*211+127_*211+129delinsTCA	ENSP00000493262.1:n.*211+127_*211+129delinsTCA
ENST00000641747.1:c.*1264+127_*1264+129delinsTCA	ENSP00000493116.1:n.*1264+127_*1264+129delinsTCA
ENST00000641759.1:n.2121+127_2121+129delinsTCA
ENST00000641805.1:n.2269+127_2269+129delinsTCA
ENST00000641820.1:c.1017+127_1017+129delinsTCA	ENSP00000492937.1:n.1017+127_1017+129delinsTCA
ENST00000376583.7:c.1875+127_1875+129delinsTCA	ENSP00000365767.3:n.1875+127_1875+129delinsTCA
ENST00000376585.5:c.1875+127_1875+129delinsTCA	ENSP00000365770.1:n.1875+127_1875+129delinsTCA
ENST00000376590.7:c.1752+127_1752+129delinsTCA	ENSP00000365775.3:n.1752+127_1752+129delinsTCA
ENST00000376592.5:c.1752+127_1752+129delinsTCA	ENSP00000365777.1:n.1752+127_1752+129delinsTCA
NM_005957.4:c.1752+127_1752+129delinsTCA , LRG_726t1:c.1752+127_1752+129delinsTCA	NP_005948.3:n.1752+127_1752+129delinsTCA
XM_005263458.2:c.1875+127_1875+129delinsTCA	XP_005263515.1:n.1875+127_1875+129delinsTCA
XM_005263460.3:c.1752+127_1752+129delinsTCA	XP_005263517.1:n.1752+127_1752+129delinsTCA
XM_005263461.3:c.1752+127_1752+129delinsTCA	XP_005263518.1:n.1752+127_1752+129delinsTCA
XM_005263462.3:c.1752+127_1752+129delinsTCA	XP_005263519.1:n.1752+127_1752+129delinsTCA
XM_005263463.2:c.1506+127_1506+129delinsTCA	XP_005263520.1:n.1506+127_1506+129delinsTCA
XM_011541495.1:c.1872+127_1872+129delinsTCA	XP_011539797.1:n.1872+127_1872+129delinsTCA
XM_011541496.1:c.1875+127_1875+129delinsTCA	XP_011539798.1:n.1875+127_1875+129delinsTCA
NM_001330358.1:c.1875+127_1875+129delinsTCA	NP_001317287.1:n.1875+127_1875+129delinsTCA
XM_005263460.5:c.1752+127_1752+129delinsTCA	XP_005263517.1:n.1752+127_1752+129delinsTCA
XM_005263462.4:c.1752+127_1752+129delinsTCA	XP_005263519.1:n.1752+127_1752+129delinsTCA
XM_005263463.4:c.1506+127_1506+129delinsTCA	XP_005263520.1:n.1506+127_1506+129delinsTCA
XM_011541495.3:c.1872+127_1872+129delinsTCA	XP_011539797.1:n.1872+127_1872+129delinsTCA
XM_011541496.3:c.1875+127_1875+129delinsTCA	XP_011539798.1:n.1875+127_1875+129delinsTCA
XM_017001328.2:c.1875+127_1875+129delinsTCA	XP_016856817.1:n.1875+127_1875+129delinsTCA
XM_024447198.1:c.1506+127_1506+129delinsTCA	XP_024302966.1:n.1506+127_1506+129delinsTCA
XR_002956640.1:n.2853+127_2853+129delinsTCA
NM_005957.5:c.1752+127_1752+129delinsTCA MANE Select	NP_005948.3:n.1752+127_1752+129delinsTCA
NM_001330358.2:c.1875+127_1875+129delinsTCA	NP_001317287.1:n.1875+127_1875+129delinsTCA