Canonical Allele Identifier: CA1153801595
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11795357_11795358delinsGA , CM000663.2:g.11795357_11795358delinsGA GRCh38
NC_000001.10:g.11855414_11855415delinsGA , CM000663.1:g.11855414_11855415delinsGA GRCh37
NC_000001.9:g.11778001_11778002delinsGA NCBI36
NG_013351.1:g.15746_15747delinsTC , LRG_726:g.15746_15747delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.904-10_904-9delinsTC ENSP00000365770.1:n.904-10_904-9delinsTC
ENST00000376590.9:c.781-10_781-9delinsTC MANE Select ENSP00000365775.3:n.781-10_781-9delinsTC
ENST00000376592.6:c.781-10_781-9delinsTC ENSP00000365777.1:n.781-10_781-9delinsTC
ENST00000423400.7:c.901-10_901-9delinsTC ENSP00000398908.3:n.901-10_901-9delinsTC
ENST00000641407.1:c.781-10_781-9delinsTC ENSP00000493098.1:n.781-10_781-9delinsTC
ENST00000641446.1:c.781-10_781-9delinsTC ENSP00000493262.1:n.781-10_781-9delinsTC
ENST00000641721.1:n.644-10_644-9delinsTC
ENST00000641747.1:c.*293-10_*293-9delinsTC ENSP00000493116.1:n.*293-10_*293-9delinsTC
ENST00000641759.1:n.916-10_916-9delinsTC
ENST00000641805.1:n.1064-10_1064-9delinsTC
ENST00000641820.1:c.46-10_46-9delinsTC ENSP00000492937.1:n.46-10_46-9delinsTC
ENST00000376583.7:c.904-10_904-9delinsTC ENSP00000365767.3:n.904-10_904-9delinsTC
ENST00000376585.5:c.904-10_904-9delinsTC ENSP00000365770.1:n.904-10_904-9delinsTC
ENST00000376590.7:c.781-10_781-9delinsTC ENSP00000365775.3:n.781-10_781-9delinsTC
ENST00000376592.5:c.781-10_781-9delinsTC ENSP00000365777.1:n.781-10_781-9delinsTC
NM_005957.4:c.781-10_781-9delinsTC , LRG_726t1:c.781-10_781-9delinsTC NP_005948.3:n.781-10_781-9delinsTC
XM_005263458.2:c.904-10_904-9delinsTC XP_005263515.1:n.904-10_904-9delinsTC
XM_005263460.3:c.781-10_781-9delinsTC XP_005263517.1:n.781-10_781-9delinsTC
XM_005263461.3:c.781-10_781-9delinsTC XP_005263518.1:n.781-10_781-9delinsTC
XM_005263462.3:c.781-10_781-9delinsTC XP_005263519.1:n.781-10_781-9delinsTC
XM_005263463.2:c.535-10_535-9delinsTC XP_005263520.1:n.535-10_535-9delinsTC
XM_011541495.1:c.901-10_901-9delinsTC XP_011539797.1:n.901-10_901-9delinsTC
XM_011541496.1:c.904-10_904-9delinsTC XP_011539798.1:n.904-10_904-9delinsTC
NM_001330358.1:c.904-10_904-9delinsTC NP_001317287.1:n.904-10_904-9delinsTC
XM_005263460.5:c.781-10_781-9delinsTC XP_005263517.1:n.781-10_781-9delinsTC
XM_005263462.4:c.781-10_781-9delinsTC XP_005263519.1:n.781-10_781-9delinsTC
XM_005263463.4:c.535-10_535-9delinsTC XP_005263520.1:n.535-10_535-9delinsTC
XM_011541495.3:c.901-10_901-9delinsTC XP_011539797.1:n.901-10_901-9delinsTC
XM_011541496.3:c.904-10_904-9delinsTC XP_011539798.1:n.904-10_904-9delinsTC
XM_017001328.2:c.904-10_904-9delinsTC XP_016856817.1:n.904-10_904-9delinsTC
XM_024447198.1:c.535-10_535-9delinsTC XP_024302966.1:n.535-10_535-9delinsTC
XR_002956640.1:n.1648-10_1648-9delinsTC
NM_005957.5:c.781-10_781-9delinsTC MANE Select NP_005948.3:n.781-10_781-9delinsTC
NM_001330358.2:c.904-10_904-9delinsTC NP_001317287.1:n.904-10_904-9delinsTC