Canonical Allele Identifier: CA2742468019

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795195_11795196insTC , CM000663.2:g.11795195_11795196insTC	GRCh38
NC_000001.10:g.11855252_11855253insTC , CM000663.1:g.11855252_11855253insTC	GRCh37
NC_000001.9:g.11777839_11777840insTC	NCBI36
NG_013351.1:g.15908_15909insGA , LRG_726:g.15908_15909insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1056_1057insGA	ENSP00000365770.1:p.Ser353GlufsTer23
ENST00000376590.9:c.933_934insGA MANE Select	ENSP00000365775.3:p.Ser312GlufsTer23
ENST00000376592.6:c.933_934insGA	ENSP00000365777.1:p.Ser312GlufsTer23
ENST00000423400.7:c.1053_1054insGA	ENSP00000398908.3:p.Ser352GlufsTer23
ENST00000641407.1:c.933_934insGA	ENSP00000493098.1:p.Ser312GlufsTer23
ENST00000641446.1:c.933_934insGA	ENSP00000493262.1:p.Ser312GlufsTer23
ENST00000641721.1:n.796_797insGA
ENST00000641747.1:c.*445_*446insGA	ENSP00000493116.1:n.*445_*446insGA
ENST00000641759.1:n.1068_1069insGA
ENST00000641805.1:n.1216_1217insGA
ENST00000641820.1:c.198_199insGA	ENSP00000492937.1:p.Ser67GlufsTer23
ENST00000376583.7:c.1056_1057insGA	ENSP00000365767.3:p.Ser353GlufsTer23
ENST00000376585.5:c.1056_1057insGA	ENSP00000365770.1:p.Ser353GlufsTer23
ENST00000376590.7:c.933_934insGA	ENSP00000365775.3:p.Ser312GlufsTer23
ENST00000376592.5:c.933_934insGA	ENSP00000365777.1:p.Ser312GlufsTer23
NM_005957.4:c.933_934insGA , LRG_726t1:c.933_934insGA	NP_005948.3:p.Ser312GlufsTer23
XM_005263458.2:c.1056_1057insGA	XP_005263515.1:p.Ser353GlufsTer23
XM_005263460.3:c.933_934insGA	XP_005263517.1:p.Ser312GlufsTer23
XM_005263461.3:c.933_934insGA	XP_005263518.1:p.Ser312GlufsTer23
XM_005263462.3:c.933_934insGA	XP_005263519.1:p.Ser312GlufsTer23
XM_005263463.2:c.687_688insGA	XP_005263520.1:p.Ser230GlufsTer23
XM_011541495.1:c.1053_1054insGA	XP_011539797.1:p.Ser352GlufsTer23
XM_011541496.1:c.1056_1057insGA	XP_011539798.1:p.Ser353GlufsTer23
NM_001330358.1:c.1056_1057insGA	NP_001317287.1:p.Ser353GlufsTer23
XM_005263460.5:c.933_934insGA	XP_005263517.1:p.Ser312GlufsTer23
XM_005263462.4:c.933_934insGA	XP_005263519.1:p.Ser312GlufsTer23
XM_005263463.4:c.687_688insGA	XP_005263520.1:p.Ser230GlufsTer23
XM_011541495.3:c.1053_1054insGA	XP_011539797.1:p.Ser352GlufsTer23
XM_011541496.3:c.1056_1057insGA	XP_011539798.1:p.Ser353GlufsTer23
XM_017001328.2:c.1056_1057insGA	XP_016856817.1:p.Ser353GlufsTer23
XM_024447198.1:c.687_688insGA	XP_024302966.1:p.Ser230GlufsTer23
XR_002956640.1:n.1800_1801insGA
NM_005957.5:c.933_934insGA MANE Select	NP_005948.3:p.Ser312GlufsTer23
NM_001330358.2:c.1056_1057insGA	NP_001317287.1:p.Ser353GlufsTer23