Canonical Allele Identifier: CA1153790094

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790381_11790384delinsTCTC , CM000663.2:g.11790381_11790384delinsTCTC	GRCh38
NC_000001.10:g.11850438_11850441delinsTCTC , CM000663.1:g.11850438_11850441delinsTCTC	GRCh37
NC_000001.9:g.11773025_11773028delinsTCTC	NCBI36
NG_013351.1:g.20720_20723delinsGAGA , LRG_726:g.20720_20723delinsGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*296_*299delinsGAGA	ENSP00000365770.1:n.*296_*299delinsGAGA
ENST00000376590.9:c.*296_*299delinsGAGA MANE Select	ENSP00000365775.3:n.*296_*299delinsGAGA
ENST00000376592.6:c.*296_*299delinsGAGA	ENSP00000365777.1:n.*296_*299delinsGAGA
ENST00000423400.7:c.*296_*299delinsGAGA	ENSP00000398908.3:n.*296_*299delinsGAGA
ENST00000641407.1:c.*156_*159delinsGAGA	ENSP00000493098.1:n.*156_*159delinsGAGA
ENST00000641446.1:c.*726_*729delinsGAGA	ENSP00000493262.1:n.*726_*729delinsGAGA
ENST00000641747.1:c.*1779_*1782delinsGAGA	ENSP00000493116.1:n.*1779_*1782delinsGAGA...
ENST00000641805.1:n.2602_2605delinsGAGA
ENST00000376583.7:c.2390_2393delinsGAGA	ENSP00000365767.3:n.2390_2393delinsGAGA
ENST00000376585.5:c.*296_*299delinsGAGA	ENSP00000365770.1:n.*296_*299delinsGAGA
ENST00000376590.7:c.*296_*299delinsGAGA	ENSP00000365775.3:n.*296_*299delinsGAGA
ENST00000376592.5:c.*296_*299delinsGAGA	ENSP00000365777.1:n.*296_*299delinsGAGA
NM_005957.4:c.*296_*299delinsGAGA , LRG_726t1:c.*296_*299delinsGAGA	NP_005948.3:n.*296_*299delinsGAGA
XM_005263458.2:c.*296_*299delinsGAGA	XP_005263515.1:n.*296_*299delinsGAGA
XM_005263460.3:c.*296_*299delinsGAGA	XP_005263517.1:n.*296_*299delinsGAGA
XM_005263461.3:c.*296_*299delinsGAGA	XP_005263518.1:n.*296_*299delinsGAGA
XM_005263462.3:c.*296_*299delinsGAGA	XP_005263519.1:n.*296_*299delinsGAGA
XM_005263463.2:c.*296_*299delinsGAGA	XP_005263520.1:n.*296_*299delinsGAGA
XM_011541495.1:c.*296_*299delinsGAGA	XP_011539797.1:n.*296_*299delinsGAGA
XM_011541496.1:c.*156_*159delinsGAGA	XP_011539798.1:n.*156_*159delinsGAGA
NM_001330358.1:c.*296_*299delinsGAGA	NP_001317287.1:n.*296_*299delinsGAGA
XM_005263460.5:c.*296_*299delinsGAGA	XP_005263517.1:n.*296_*299delinsGAGA
XM_005263462.4:c.*296_*299delinsGAGA	XP_005263519.1:n.*296_*299delinsGAGA
XM_005263463.4:c.*296_*299delinsGAGA	XP_005263520.1:n.*296_*299delinsGAGA
XM_011541495.3:c.*296_*299delinsGAGA	XP_011539797.1:n.*296_*299delinsGAGA
XM_011541496.3:c.*156_*159delinsGAGA	XP_011539798.1:n.*156_*159delinsGAGA
XM_024447198.1:c.*296_*299delinsGAGA	XP_024302966.1:n.*296_*299delinsGAGA
NM_005957.5:c.*296_*299delinsGAGA MANE Select	NP_005948.3:n.*296_*299delinsGAGA
NM_001330358.2:c.*296_*299delinsGAGA	NP_001317287.1:n.*296_*299delinsGAGA