Canonical Allele Identifier: CA1153799594

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794691_11794695delinsCAAAG , CM000663.2:g.11794691_11794695delinsCAAAG	GRCh38
NC_000001.10:g.11854748_11854752delinsCAAAG , CM000663.1:g.11854748_11854752delinsCAAAG	GRCh37
NC_000001.9:g.11777335_11777339delinsCAAAG	NCBI36
NG_013351.1:g.16409_16413delinsCTTTG , LRG_726:g.16409_16413delinsCTTTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1289+34_1289+38delinsCTTTG	ENSP00000365770.1:n.1289+34_1289+38delins...
ENST00000376590.9:c.1166+34_1166+38delinsCTTTG MANE Select	ENSP00000365775.3:n.1166+34_1166+38delins...
ENST00000376592.6:c.1166+34_1166+38delinsCTTTG	ENSP00000365777.1:n.1166+34_1166+38delins...
ENST00000423400.7:c.1286+34_1286+38delinsCTTTG	ENSP00000398908.3:n.1286+34_1286+38delins...
ENST00000641407.1:c.1166+34_1166+38delinsCTTTG	ENSP00000493098.1:n.1166+34_1166+38delins...
ENST00000641446.1:c.1166+34_1166+38delinsCTTTG	ENSP00000493262.1:n.1166+34_1166+38delins...
ENST00000641747.1:c.*678+34_*678+38delinsCTTTG	ENSP00000493116.1:n.*678+34_*678+38delins...
ENST00000641759.1:n.1535+34_1535+38delinsCTTTG
ENST00000641805.1:n.1683+34_1683+38delinsCTTTG
ENST00000641820.1:c.431+34_431+38delinsCTTTG	ENSP00000492937.1:n.431+34_431+38delinsCT...
ENST00000376583.7:c.1289+34_1289+38delinsCTTTG	ENSP00000365767.3:n.1289+34_1289+38delins...
ENST00000376585.5:c.1289+34_1289+38delinsCTTTG	ENSP00000365770.1:n.1289+34_1289+38delins...
ENST00000376590.7:c.1166+34_1166+38delinsCTTTG	ENSP00000365775.3:n.1166+34_1166+38delins...
ENST00000376592.5:c.1166+34_1166+38delinsCTTTG	ENSP00000365777.1:n.1166+34_1166+38delins...
NM_005957.4:c.1166+34_1166+38delinsCTTTG , LRG_726t1:c.1166+34_1166+38delinsCTTTG	NP_005948.3:n.1166+34_1166+38delinsCTTTG
XM_005263458.2:c.1289+34_1289+38delinsCTTTG	XP_005263515.1:n.1289+34_1289+38delinsCTT...
XM_005263460.3:c.1166+34_1166+38delinsCTTTG	XP_005263517.1:n.1166+34_1166+38delinsCTT...
XM_005263461.3:c.1166+34_1166+38delinsCTTTG	XP_005263518.1:n.1166+34_1166+38delinsCTT...
XM_005263462.3:c.1166+34_1166+38delinsCTTTG	XP_005263519.1:n.1166+34_1166+38delinsCTT...
XM_005263463.2:c.920+34_920+38delinsCTTTG	XP_005263520.1:n.920+34_920+38delinsCTTTG...
XM_011541495.1:c.1286+34_1286+38delinsCTTTG	XP_011539797.1:n.1286+34_1286+38delinsCTT...
XM_011541496.1:c.1289+34_1289+38delinsCTTTG	XP_011539798.1:n.1289+34_1289+38delinsCTT...
NM_001330358.1:c.1289+34_1289+38delinsCTTTG	NP_001317287.1:n.1289+34_1289+38delinsCTT...
XM_005263460.5:c.1166+34_1166+38delinsCTTTG	XP_005263517.1:n.1166+34_1166+38delinsCTT...
XM_005263462.4:c.1166+34_1166+38delinsCTTTG	XP_005263519.1:n.1166+34_1166+38delinsCTT...
XM_005263463.4:c.920+34_920+38delinsCTTTG	XP_005263520.1:n.920+34_920+38delinsCTTTG...
XM_011541495.3:c.1286+34_1286+38delinsCTTTG	XP_011539797.1:n.1286+34_1286+38delinsCTT...
XM_011541496.3:c.1289+34_1289+38delinsCTTTG	XP_011539798.1:n.1289+34_1289+38delinsCTT...
XM_017001328.2:c.1289+34_1289+38delinsCTTTG	XP_016856817.1:n.1289+34_1289+38delinsCTT...
XM_024447198.1:c.920+34_920+38delinsCTTTG	XP_024302966.1:n.920+34_920+38delinsCTTTG...
XR_002956640.1:n.2267+34_2267+38delinsCTTTG
NM_005957.5:c.1166+34_1166+38delinsCTTTG MANE Select	NP_005948.3:n.1166+34_1166+38delinsCTTTG
NM_001330358.2:c.1289+34_1289+38delinsCTTTG	NP_001317287.1:n.1289+34_1289+38delinsCTT...