Canonical Allele Identifier: CA1148479371

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794751_11794753delinsCCC , CM000663.2:g.11794751_11794753delinsCCC	GRCh38
NC_000001.10:g.11854808_11854810delinsCCC , CM000663.1:g.11854808_11854810delinsCCC	GRCh37
NC_000001.9:g.11777395_11777397delinsCCC	NCBI36
NG_013351.1:g.16351_16353delinsGGG , LRG_726:g.16351_16353delinsGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1265_1267delinsGGG	ENSP00000365770.1:p.Trp422=
ENST00000376590.9:c.1142_1144delinsGGG MANE Select	ENSP00000365775.3:p.Trp381=
ENST00000376592.6:c.1142_1144delinsGGG	ENSP00000365777.1:p.Trp381=
ENST00000423400.7:c.1262_1264delinsGGG	ENSP00000398908.3:p.Trp421=
ENST00000641407.1:c.1142_1144delinsGGG	ENSP00000493098.1:p.Trp381=
ENST00000641446.1:c.1142_1144delinsGGG	ENSP00000493262.1:p.Trp381=
ENST00000641747.1:c.*654_*656delinsGGG	ENSP00000493116.1:n.*654_*656delinsGGG
ENST00000641759.1:n.1511_1513delinsGGG
ENST00000641805.1:n.1659_1661delinsGGG
ENST00000641820.1:c.407_409delinsGGG	ENSP00000492937.1:p.Trp136=
ENST00000376583.7:c.1265_1267delinsGGG	ENSP00000365767.3:p.Trp422=
ENST00000376585.5:c.1265_1267delinsGGG	ENSP00000365770.1:p.Trp422=
ENST00000376590.7:c.1142_1144delinsGGG	ENSP00000365775.3:p.Trp381=
ENST00000376592.5:c.1142_1144delinsGGG	ENSP00000365777.1:p.Trp381=
NM_005957.4:c.1142_1144delinsGGG , LRG_726t1:c.1142_1144delinsGGG	NP_005948.3:p.Trp381=
XM_005263458.2:c.1265_1267delinsGGG	XP_005263515.1:p.Trp422=
XM_005263460.3:c.1142_1144delinsGGG	XP_005263517.1:p.Trp381=
XM_005263461.3:c.1142_1144delinsGGG	XP_005263518.1:p.Trp381=
XM_005263462.3:c.1142_1144delinsGGG	XP_005263519.1:p.Trp381=
XM_005263463.2:c.896_898delinsGGG	XP_005263520.1:p.Trp299=
XM_011541495.1:c.1262_1264delinsGGG	XP_011539797.1:p.Trp421=
XM_011541496.1:c.1265_1267delinsGGG	XP_011539798.1:p.Trp422=
NM_001330358.1:c.1265_1267delinsGGG	NP_001317287.1:p.Trp422=
XM_005263460.5:c.1142_1144delinsGGG	XP_005263517.1:p.Trp381=
XM_005263462.4:c.1142_1144delinsGGG	XP_005263519.1:p.Trp381=
XM_005263463.4:c.896_898delinsGGG	XP_005263520.1:p.Trp299=
XM_011541495.3:c.1262_1264delinsGGG	XP_011539797.1:p.Trp421=
XM_011541496.3:c.1265_1267delinsGGG	XP_011539798.1:p.Trp422=
XM_017001328.2:c.1265_1267delinsGGG	XP_016856817.1:p.Trp422=
XM_024447198.1:c.896_898delinsGGG	XP_024302966.1:p.Trp299=
XR_002956640.1:n.2243_2245delinsGGG
NM_005957.5:c.1142_1144delinsGGG MANE Select	NP_005948.3:p.Trp381=
NM_001330358.2:c.1265_1267delinsGGG	NP_001317287.1:p.Trp422=