Canonical Allele Identifier: CA1153791604

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790915_11790923delinsCCGCACACA , CM000663.2:g.11790915_11790923delinsCCGCACACA	GRCh38
NC_000001.10:g.11850972_11850980delinsCCGCACACA , CM000663.1:g.11850972_11850980delinsCCGCACACA	GRCh37
NC_000001.9:g.11773559_11773567delinsCCGCACACA	NCBI36
NG_013351.1:g.20181_20189delinsTGTGTGCGG , LRG_726:g.20181_20189delinsTGTGTGCGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1876-25_1876-17delinsTGTGTGCGG	ENSP00000365770.1:n.1876-25_1876-17delinsTGTGTGCGG
ENST00000376590.9:c.1753-25_1753-17delinsTGTGTGCGG MANE Select	ENSP00000365775.3:n.1753-25_1753-17delinsTGTGTGCGG
ENST00000376592.6:c.1753-25_1753-17delinsTGTGTGCGG	ENSP00000365777.1:n.1753-25_1753-17delinsTGTGTGCGG
ENST00000423400.7:c.1873-25_1873-17delinsTGTGTGCGG	ENSP00000398908.3:n.1873-25_1873-17delinsTGTGTGCGG
ENST00000641407.1:c.1753-207_1753-199delinsTGTGTGCGG	ENSP00000493098.1:n.1753-207_1753-199delinsTGTGTGCGG
ENST00000641446.1:c.*212-25_*212-17delinsTGTGTGCGG	ENSP00000493262.1:n.*212-25_*212-17delinsTGTGTGCGG
ENST00000641747.1:c.*1265-25_*1265-17delinsTGTGTGCGG	ENSP00000493116.1:n.*1265-25_*1265-17delinsTGTGTGCGG
ENST00000641759.1:n.2122-25_2122-17delinsTGTGTGCGG
ENST00000641805.1:n.2270-207_2270-199delinsTGTGTGCGG
ENST00000641820.1:c.1018-25_1018-17delinsTGTGTGCGG	ENSP00000492937.1:n.1018-25_1018-17delinsTGTGTGCGG
ENST00000376583.7:c.1876-25_1876-17delinsTGTGTGCGG	ENSP00000365767.3:n.1876-25_1876-17delinsTGTGTGCGG
ENST00000376585.5:c.1876-25_1876-17delinsTGTGTGCGG	ENSP00000365770.1:n.1876-25_1876-17delinsTGTGTGCGG
ENST00000376590.7:c.1753-25_1753-17delinsTGTGTGCGG	ENSP00000365775.3:n.1753-25_1753-17delinsTGTGTGCGG
ENST00000376592.5:c.1753-25_1753-17delinsTGTGTGCGG	ENSP00000365777.1:n.1753-25_1753-17delinsTGTGTGCGG
NM_005957.4:c.1753-25_1753-17delinsTGTGTGCGG , LRG_726t1:c.1753-25_1753-17delinsTGTGTGCGG	NP_005948.3:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263458.2:c.1876-25_1876-17delinsTGTGTGCGG	XP_005263515.1:n.1876-25_1876-17delinsTGTGTGCGG
XM_005263460.3:c.1753-25_1753-17delinsTGTGTGCGG	XP_005263517.1:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263461.3:c.1753-25_1753-17delinsTGTGTGCGG	XP_005263518.1:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263462.3:c.1753-25_1753-17delinsTGTGTGCGG	XP_005263519.1:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263463.2:c.1507-25_1507-17delinsTGTGTGCGG	XP_005263520.1:n.1507-25_1507-17delinsTGTGTGCGG
XM_011541495.1:c.1873-25_1873-17delinsTGTGTGCGG	XP_011539797.1:n.1873-25_1873-17delinsTGTGTGCGG
XM_011541496.1:c.1876-207_1876-199delinsTGTGTGCGG	XP_011539798.1:n.1876-207_1876-199delinsTGTGTGCGG
NM_001330358.1:c.1876-25_1876-17delinsTGTGTGCGG	NP_001317287.1:n.1876-25_1876-17delinsTGTGTGCGG
XM_005263460.5:c.1753-25_1753-17delinsTGTGTGCGG	XP_005263517.1:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263462.4:c.1753-25_1753-17delinsTGTGTGCGG	XP_005263519.1:n.1753-25_1753-17delinsTGTGTGCGG
XM_005263463.4:c.1507-25_1507-17delinsTGTGTGCGG	XP_005263520.1:n.1507-25_1507-17delinsTGTGTGCGG
XM_011541495.3:c.1873-25_1873-17delinsTGTGTGCGG	XP_011539797.1:n.1873-25_1873-17delinsTGTGTGCGG
XM_011541496.3:c.1876-207_1876-199delinsTGTGTGCGG	XP_011539798.1:n.1876-207_1876-199delinsTGTGTGCGG
XM_017001328.2:c.1876-175_1876-167delinsTGTGTGCGG	XP_016856817.1:n.1876-175_1876-167delinsTGTGTGCGG
XM_024447198.1:c.1507-25_1507-17delinsTGTGTGCGG	XP_024302966.1:n.1507-25_1507-17delinsTGTGTGCGG
XR_002956640.1:n.2854-207_2854-199delinsTGTGTGCGG
NM_005957.5:c.1753-25_1753-17delinsTGTGTGCGG MANE Select	NP_005948.3:n.1753-25_1753-17delinsTGTGTGCGG
NM_001330358.2:c.1876-25_1876-17delinsTGTGTGCGG	NP_001317287.1:n.1876-25_1876-17delinsTGTGTGCGG