Canonical Allele Identifier: CA1153801301

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795265_11795269delinsTTTGA , CM000663.2:g.11795265_11795269delinsTTTGA	GRCh38
NC_000001.10:g.11855322_11855326delinsTTTGA , CM000663.1:g.11855322_11855326delinsTTTGA	GRCh37
NC_000001.9:g.11777909_11777913delinsTTTGA	NCBI36
NG_013351.1:g.15835_15839delinsTCAAA , LRG_726:g.15835_15839delinsTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.983_987delinsTCAAA	ENSP00000365770.1:p.Ile328=
ENST00000376590.9:c.860_864delinsTCAAA MANE Select	ENSP00000365775.3:p.Ile287=
ENST00000376592.6:c.860_864delinsTCAAA	ENSP00000365777.1:p.Ile287=
ENST00000423400.7:c.980_984delinsTCAAA	ENSP00000398908.3:p.Ile327=
ENST00000641407.1:c.860_864delinsTCAAA	ENSP00000493098.1:p.Ile287=
ENST00000641446.1:c.860_864delinsTCAAA	ENSP00000493262.1:p.Ile287=
ENST00000641721.1:n.723_727delinsTCAAA
ENST00000641747.1:c.*372_*376delinsTCAAA	ENSP00000493116.1:n.*372_*376delinsTCAAA
ENST00000641759.1:n.995_999delinsTCAAA
ENST00000641805.1:n.1143_1147delinsTCAAA
ENST00000641820.1:c.125_129delinsTCAAA	ENSP00000492937.1:p.Ile42=
ENST00000376583.7:c.983_987delinsTCAAA	ENSP00000365767.3:p.Ile328=
ENST00000376585.5:c.983_987delinsTCAAA	ENSP00000365770.1:p.Ile328=
ENST00000376590.7:c.860_864delinsTCAAA	ENSP00000365775.3:p.Ile287=
ENST00000376592.5:c.860_864delinsTCAAA	ENSP00000365777.1:p.Ile287=
NM_005957.4:c.860_864delinsTCAAA , LRG_726t1:c.860_864delinsTCAAA	NP_005948.3:p.Ile287=
XM_005263458.2:c.983_987delinsTCAAA	XP_005263515.1:p.Ile328=
XM_005263460.3:c.860_864delinsTCAAA	XP_005263517.1:p.Ile287=
XM_005263461.3:c.860_864delinsTCAAA	XP_005263518.1:p.Ile287=
XM_005263462.3:c.860_864delinsTCAAA	XP_005263519.1:p.Ile287=
XM_005263463.2:c.614_618delinsTCAAA	XP_005263520.1:p.Ile205=
XM_011541495.1:c.980_984delinsTCAAA	XP_011539797.1:p.Ile327=
XM_011541496.1:c.983_987delinsTCAAA	XP_011539798.1:p.Ile328=
NM_001330358.1:c.983_987delinsTCAAA	NP_001317287.1:p.Ile328=
XM_005263460.5:c.860_864delinsTCAAA	XP_005263517.1:p.Ile287=
XM_005263462.4:c.860_864delinsTCAAA	XP_005263519.1:p.Ile287=
XM_005263463.4:c.614_618delinsTCAAA	XP_005263520.1:p.Ile205=
XM_011541495.3:c.980_984delinsTCAAA	XP_011539797.1:p.Ile327=
XM_011541496.3:c.983_987delinsTCAAA	XP_011539798.1:p.Ile328=
XM_017001328.2:c.983_987delinsTCAAA	XP_016856817.1:p.Ile328=
XM_024447198.1:c.614_618delinsTCAAA	XP_024302966.1:p.Ile205=
XR_002956640.1:n.1727_1731delinsTCAAA
NM_005957.5:c.860_864delinsTCAAA MANE Select	NP_005948.3:p.Ile287=
NM_001330358.2:c.983_987delinsTCAAA	NP_001317287.1:p.Ile328=