Canonical Allele Identifier: CA1153809647

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802975_11802981delinsTCTCCCG , CM000663.2:g.11802975_11802981delinsTCTCCCG	GRCh38
NC_000001.10:g.11863032_11863038delinsTCTCCCG , CM000663.1:g.11863032_11863038delinsTCTCCCG	GRCh37
NC_000001.9:g.11785619_11785625delinsTCTCCCG	NCBI36
NG_008766.1:g.1826_1832delinsTCTCCCG
NG_013351.1:g.8123_8129delinsCGGGAGA , LRG_726:g.8123_8129delinsCGGGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.136_142delinsCGGGAGA	ENSP00000365669.3:p.Arg46=
ENST00000376585.6:c.259_265delinsCGGGAGA	ENSP00000365770.1:p.Arg87=
ENST00000376590.9:c.136_142delinsCGGGAGA MANE Select	ENSP00000365775.3:p.Arg46=
ENST00000376592.6:c.136_142delinsCGGGAGA	ENSP00000365777.1:p.Arg46=
ENST00000423400.7:c.256_262delinsCGGGAGA	ENSP00000398908.3:p.Arg86=
ENST00000431243.6:n.917_923delinsCGGGAGA
ENST00000641407.1:c.136_142delinsCGGGAGA	ENSP00000493098.1:p.Arg46=
ENST00000641437.1:n.268_274delinsCGGGAGA
ENST00000641446.1:c.136_142delinsCGGGAGA	ENSP00000493262.1:p.Arg46=
ENST00000641721.1:n.193_199delinsCGGGAGA
ENST00000641747.1:c.136_142delinsCGGGAGA	ENSP00000493116.1:p.Arg46=
ENST00000641759.1:n.271_277delinsCGGGAGA
ENST00000641805.1:n.419_425delinsCGGGAGA
ENST00000641909.1:n.546_552delinsCGGGAGA
ENST00000642002.1:n.365_371delinsCGGGAGA
ENST00000376583.7:c.259_265delinsCGGGAGA	ENSP00000365767.3:p.Arg87=
ENST00000376585.5:c.259_265delinsCGGGAGA	ENSP00000365770.1:p.Arg87=
ENST00000376590.7:c.136_142delinsCGGGAGA	ENSP00000365775.3:p.Arg46=
ENST00000376592.5:c.136_142delinsCGGGAGA	ENSP00000365777.1:p.Arg46=
ENST00000418034.1:c.136_142delinsCGGGAGA	ENSP00000405082.1:p.Arg46=
NM_005957.4:c.136_142delinsCGGGAGA , LRG_726t1:c.136_142delinsCGGGAGA	NP_005948.3:p.Arg46=
XM_005263458.2:c.259_265delinsCGGGAGA	XP_005263515.1:p.Arg87=
XM_005263460.3:c.136_142delinsCGGGAGA	XP_005263517.1:p.Arg46=
XM_005263461.3:c.136_142delinsCGGGAGA	XP_005263518.1:p.Arg46=
XM_005263462.3:c.136_142delinsCGGGAGA	XP_005263519.1:p.Arg46=
XM_005263463.2:c.-128_-122delinsCGGGAGA	XP_005263520.1:n.-128_-122delinsCGGGAGA
XM_011541495.1:c.256_262delinsCGGGAGA	XP_011539797.1:p.Arg86=
XM_011541496.1:c.259_265delinsCGGGAGA	XP_011539798.1:p.Arg87=
NM_001330358.1:c.259_265delinsCGGGAGA	NP_001317287.1:p.Arg87=
XM_005263460.5:c.136_142delinsCGGGAGA	XP_005263517.1:p.Arg46=
XM_005263462.4:c.136_142delinsCGGGAGA	XP_005263519.1:p.Arg46=
XM_005263463.4:c.-128_-122delinsCGGGAGA	XP_005263520.1:n.-128_-122delinsCGGGAGA
XM_011541495.3:c.256_262delinsCGGGAGA	XP_011539797.1:p.Arg86=
XM_011541496.3:c.259_265delinsCGGGAGA	XP_011539798.1:p.Arg87=
XM_017001328.2:c.259_265delinsCGGGAGA	XP_016856817.1:p.Arg87=
XM_024447198.1:c.-128_-122delinsCGGGAGA	XP_024302966.1:n.-128_-122delinsCGGGAGA
XR_002956640.1:n.1003_1009delinsCGGGAGA
NM_005957.5:c.136_142delinsCGGGAGA MANE Select	NP_005948.3:p.Arg46=
NM_001330358.2:c.259_265delinsCGGGAGA	NP_001317287.1:p.Arg87=