Canonical Allele Identifier: CA2573130472

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100499302

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791267_11791268insTTT , CM000663.2:g.11791267_11791268insTTT	GRCh38
NC_000001.10:g.11851324_11851325insTTT , CM000663.1:g.11851324_11851325insTTT	GRCh37
NC_000001.9:g.11773911_11773912insTTT	NCBI36
NG_013351.1:g.19836_19837insAAA , LRG_726:g.19836_19837insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1814_1815insAAA	ENSP00000365770.1:p.Phe605delinsLeuAsn
ENST00000376590.9:c.1691_1692insAAA MANE Select	ENSP00000365775.3:p.Phe564delinsLeuAsn
ENST00000376592.6:c.1691_1692insAAA	ENSP00000365777.1:p.Phe564delinsLeuAsn
ENST00000423400.7:c.1811_1812insAAA	ENSP00000398908.3:p.Phe604delinsLeuAsn
ENST00000641407.1:c.1691_1692insAAA	ENSP00000493098.1:p.Phe564delinsLeuAsn
ENST00000641446.1:c.*150_*151insAAA	ENSP00000493262.1:n.*150_*151insAAA
ENST00000641747.1:c.*1203_*1204insAAA	ENSP00000493116.1:n.*1203_*1204insAAA
ENST00000641759.1:n.2060_2061insAAA
ENST00000641805.1:n.2208_2209insAAA
ENST00000641820.1:c.956_957insAAA	ENSP00000492937.1:p.Phe319delinsLeuAsn
ENST00000376583.7:c.1814_1815insAAA	ENSP00000365767.3:p.Phe605delinsLeuAsn
ENST00000376585.5:c.1814_1815insAAA	ENSP00000365770.1:p.Phe605delinsLeuAsn
ENST00000376590.7:c.1691_1692insAAA	ENSP00000365775.3:p.Phe564delinsLeuAsn
ENST00000376592.5:c.1691_1692insAAA	ENSP00000365777.1:p.Phe564delinsLeuAsn
NM_005957.4:c.1691_1692insAAA , LRG_726t1:c.1691_1692insAAA	NP_005948.3:p.Phe564delinsLeuAsn
XM_005263458.2:c.1814_1815insAAA	XP_005263515.1:p.Phe605delinsLeuAsn
XM_005263460.3:c.1691_1692insAAA	XP_005263517.1:p.Phe564delinsLeuAsn
XM_005263461.3:c.1691_1692insAAA	XP_005263518.1:p.Phe564delinsLeuAsn
XM_005263462.3:c.1691_1692insAAA	XP_005263519.1:p.Phe564delinsLeuAsn
XM_005263463.2:c.1445_1446insAAA	XP_005263520.1:p.Phe482delinsLeuAsn
XM_011541495.1:c.1811_1812insAAA	XP_011539797.1:p.Phe604delinsLeuAsn
XM_011541496.1:c.1814_1815insAAA	XP_011539798.1:p.Phe605delinsLeuAsn
NM_001330358.1:c.1814_1815insAAA	NP_001317287.1:p.Phe605delinsLeuAsn
XM_005263460.5:c.1691_1692insAAA	XP_005263517.1:p.Phe564delinsLeuAsn
XM_005263462.4:c.1691_1692insAAA	XP_005263519.1:p.Phe564delinsLeuAsn
XM_005263463.4:c.1445_1446insAAA	XP_005263520.1:p.Phe482delinsLeuAsn
XM_011541495.3:c.1811_1812insAAA	XP_011539797.1:p.Phe604delinsLeuAsn
XM_011541496.3:c.1814_1815insAAA	XP_011539798.1:p.Phe605delinsLeuAsn
XM_017001328.2:c.1814_1815insAAA	XP_016856817.1:p.Phe605delinsLeuAsn
XM_024447198.1:c.1445_1446insAAA	XP_024302966.1:p.Phe482delinsLeuAsn
XR_002956640.1:n.2792_2793insAAA
NM_005957.5:c.1691_1692insAAA MANE Select	NP_005948.3:p.Phe564delinsLeuAsn
NM_001330358.2:c.1814_1815insAAA	NP_001317287.1:p.Phe605delinsLeuAsn