Canonical Allele Identifier: CA2742479657

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790923_11790925del , CM000663.2:g.11790923_11790925del	GRCh38
NC_000001.10:g.11850980_11850982del , CM000663.1:g.11850980_11850982del	GRCh37
NC_000001.9:g.11773567_11773569del	NCBI36
NG_013351.1:g.20179_20181del , LRG_726:g.20179_20181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-27_1876-25del	ENSP00000365770.1:n.1876-27_1876-25del
ENST00000376590.9:c.1753-27_1753-25del MANE Select	ENSP00000365775.3:n.1753-27_1753-25del
ENST00000376592.6:c.1753-27_1753-25del	ENSP00000365777.1:n.1753-27_1753-25del
ENST00000423400.7:c.1873-27_1873-25del	ENSP00000398908.3:n.1873-27_1873-25del
ENST00000641407.1:c.1753-209_1753-207del	ENSP00000493098.1:n.1753-209_1753-207del
ENST00000641446.1:c.*212-27_*212-25del	ENSP00000493262.1:n.*212-27_*212-25del
ENST00000641747.1:c.*1265-27_*1265-25del	ENSP00000493116.1:n.*1265-27_*1265-25del
ENST00000641759.1:n.2122-27_2122-25del
ENST00000641805.1:n.2270-209_2270-207del
ENST00000641820.1:c.1018-27_1018-25del	ENSP00000492937.1:n.1018-27_1018-25del
ENST00000376583.7:c.1876-27_1876-25del	ENSP00000365767.3:n.1876-27_1876-25del
ENST00000376585.5:c.1876-27_1876-25del	ENSP00000365770.1:n.1876-27_1876-25del
ENST00000376590.7:c.1753-27_1753-25del	ENSP00000365775.3:n.1753-27_1753-25del
ENST00000376592.5:c.1753-27_1753-25del	ENSP00000365777.1:n.1753-27_1753-25del
NM_005957.4:c.1753-27_1753-25del , LRG_726t1:c.1753-27_1753-25del	NP_005948.3:n.1753-27_1753-25del
XM_005263458.2:c.1876-27_1876-25del	XP_005263515.1:n.1876-27_1876-25del
XM_005263460.3:c.1753-27_1753-25del	XP_005263517.1:n.1753-27_1753-25del
XM_005263461.3:c.1753-27_1753-25del	XP_005263518.1:n.1753-27_1753-25del
XM_005263462.3:c.1753-27_1753-25del	XP_005263519.1:n.1753-27_1753-25del
XM_005263463.2:c.1507-27_1507-25del	XP_005263520.1:n.1507-27_1507-25del
XM_011541495.1:c.1873-27_1873-25del	XP_011539797.1:n.1873-27_1873-25del
XM_011541496.1:c.1876-209_1876-207del	XP_011539798.1:n.1876-209_1876-207del
NM_001330358.1:c.1876-27_1876-25del	NP_001317287.1:n.1876-27_1876-25del
XM_005263460.5:c.1753-27_1753-25del	XP_005263517.1:n.1753-27_1753-25del
XM_005263462.4:c.1753-27_1753-25del	XP_005263519.1:n.1753-27_1753-25del
XM_005263463.4:c.1507-27_1507-25del	XP_005263520.1:n.1507-27_1507-25del
XM_011541495.3:c.1873-27_1873-25del	XP_011539797.1:n.1873-27_1873-25del
XM_011541496.3:c.1876-209_1876-207del	XP_011539798.1:n.1876-209_1876-207del
XM_017001328.2:c.1876-177_1876-175del	XP_016856817.1:n.1876-177_1876-175del
XM_024447198.1:c.1507-27_1507-25del	XP_024302966.1:n.1507-27_1507-25del
XR_002956640.1:n.2854-209_2854-207del
NM_005957.5:c.1753-27_1753-25del MANE Select	NP_005948.3:n.1753-27_1753-25del
NM_001330358.2:c.1876-27_1876-25del	NP_001317287.1:n.1876-27_1876-25del