Canonical Allele Identifier: CA2586964028

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794797_11794812del , CM000663.2:g.11794797_11794812del	GRCh38
NC_000001.10:g.11854854_11854869del , CM000663.1:g.11854854_11854869del	GRCh37
NC_000001.9:g.11777441_11777456del	NCBI36
NG_013351.1:g.16294_16309del , LRG_726:g.16294_16309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1208_1223del	ENSP00000365770.1:p.Val403GlyfsTer?
ENST00000376590.9:c.1085_1100del MANE Select	ENSP00000365775.3:p.Val362GlyfsTer?
ENST00000376592.6:c.1085_1100del	ENSP00000365777.1:p.Val362GlyfsTer?
ENST00000423400.7:c.1205_1220del	ENSP00000398908.3:p.Val402GlyfsTer?
ENST00000641407.1:c.1085_1100del	ENSP00000493098.1:p.Val362GlyfsTer?
ENST00000641446.1:c.1085_1100del	ENSP00000493262.1:p.Val362GlyfsTer?
ENST00000641747.1:c.*597_*612del	ENSP00000493116.1:n.*597_*612del
ENST00000641759.1:n.1454_1469del
ENST00000641805.1:n.1602_1617del
ENST00000641820.1:c.350_365del	ENSP00000492937.1:p.Val117GlyfsTer?
ENST00000376583.7:c.1208_1223del	ENSP00000365767.3:p.Val403GlyfsTer?
ENST00000376585.5:c.1208_1223del	ENSP00000365770.1:p.Val403GlyfsTer?
ENST00000376590.7:c.1085_1100del	ENSP00000365775.3:p.Val362GlyfsTer?
ENST00000376592.5:c.1085_1100del	ENSP00000365777.1:p.Val362GlyfsTer?
NM_005957.4:c.1085_1100del , LRG_726t1:c.1085_1100del	NP_005948.3:p.Val362GlyfsTer?
XM_005263458.2:c.1208_1223del	XP_005263515.1:p.Val403GlyfsTer?
XM_005263460.3:c.1085_1100del	XP_005263517.1:p.Val362GlyfsTer?
XM_005263461.3:c.1085_1100del	XP_005263518.1:p.Val362GlyfsTer?
XM_005263462.3:c.1085_1100del	XP_005263519.1:p.Val362GlyfsTer?
XM_005263463.2:c.839_854del	XP_005263520.1:p.Val280GlyfsTer?
XM_011541495.1:c.1205_1220del	XP_011539797.1:p.Val402GlyfsTer?
XM_011541496.1:c.1208_1223del	XP_011539798.1:p.Val403GlyfsTer?
NM_001330358.1:c.1208_1223del	NP_001317287.1:p.Val403GlyfsTer?
XM_005263460.5:c.1085_1100del	XP_005263517.1:p.Val362GlyfsTer?
XM_005263462.4:c.1085_1100del	XP_005263519.1:p.Val362GlyfsTer?
XM_005263463.4:c.839_854del	XP_005263520.1:p.Val280GlyfsTer?
XM_011541495.3:c.1205_1220del	XP_011539797.1:p.Val402GlyfsTer?
XM_011541496.3:c.1208_1223del	XP_011539798.1:p.Val403GlyfsTer?
XM_017001328.2:c.1208_1223del	XP_016856817.1:p.Val403GlyfsTer?
XM_024447198.1:c.839_854del	XP_024302966.1:p.Val280GlyfsTer?
XR_002956640.1:n.2186_2201del
NM_005957.5:c.1085_1100del MANE Select	NP_005948.3:p.Val362GlyfsTer?
NM_001330358.2:c.1208_1223del	NP_001317287.1:p.Val403GlyfsTer?