Canonical Allele Identifier: CA2643302073

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11791085-G-GGGCACACCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791085_11791086insGGCACACCC , CM000663.2:g.11791085_11791086insGGCACACCC	GRCh38
NC_000001.10:g.11851142_11851143insGGCACACCC , CM000663.1:g.11851142_11851143insGGCACACCC	GRCh37
NC_000001.9:g.11773729_11773730insGGCACACCC	NCBI36
NG_013351.1:g.20018_20019insGGGTGTGCC , LRG_726:g.20018_20019insGGGTGTGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1875+121_1875+122insGGGTGTGCC	ENSP00000365770.1:n.1875+121_1875+122insGGGTGTGCC
ENST00000376590.9:c.1752+121_1752+122insGGGTGTGCC MANE Select	ENSP00000365775.3:n.1752+121_1752+122insGGGTGTGCC
ENST00000376592.6:c.1752+121_1752+122insGGGTGTGCC	ENSP00000365777.1:n.1752+121_1752+122insGGGTGTGCC
ENST00000423400.7:c.1872+121_1872+122insGGGTGTGCC	ENSP00000398908.3:n.1872+121_1872+122insGGGTGTGCC
ENST00000641407.1:c.1752+121_1752+122insGGGTGTGCC	ENSP00000493098.1:n.1752+121_1752+122insGGGTGTGCC
ENST00000641446.1:c.*211+121_*211+122insGGGTGTGCC	ENSP00000493262.1:n.*211+121_*211+122insGGGTGTGCC
ENST00000641747.1:c.*1264+121_*1264+122insGGGTGTGCC	ENSP00000493116.1:n.*1264+121_*1264+122insGGGTGTGCC
ENST00000641759.1:n.2121+121_2121+122insGGGTGTGCC
ENST00000641805.1:n.2269+121_2269+122insGGGTGTGCC
ENST00000641820.1:c.1017+121_1017+122insGGGTGTGCC	ENSP00000492937.1:n.1017+121_1017+122insGGGTGTGCC
ENST00000376583.7:c.1875+121_1875+122insGGGTGTGCC	ENSP00000365767.3:n.1875+121_1875+122insGGGTGTGCC
ENST00000376585.5:c.1875+121_1875+122insGGGTGTGCC	ENSP00000365770.1:n.1875+121_1875+122insGGGTGTGCC
ENST00000376590.7:c.1752+121_1752+122insGGGTGTGCC	ENSP00000365775.3:n.1752+121_1752+122insGGGTGTGCC
ENST00000376592.5:c.1752+121_1752+122insGGGTGTGCC	ENSP00000365777.1:n.1752+121_1752+122insGGGTGTGCC
NM_005957.4:c.1752+121_1752+122insGGGTGTGCC , LRG_726t1:c.1752+121_1752+122insGGGTGTGCC	NP_005948.3:n.1752+121_1752+122insGGGTGTGCC
XM_005263458.2:c.1875+121_1875+122insGGGTGTGCC	XP_005263515.1:n.1875+121_1875+122insGGGTGTGCC
XM_005263460.3:c.1752+121_1752+122insGGGTGTGCC	XP_005263517.1:n.1752+121_1752+122insGGGTGTGCC
XM_005263461.3:c.1752+121_1752+122insGGGTGTGCC	XP_005263518.1:n.1752+121_1752+122insGGGTGTGCC
XM_005263462.3:c.1752+121_1752+122insGGGTGTGCC	XP_005263519.1:n.1752+121_1752+122insGGGTGTGCC
XM_005263463.2:c.1506+121_1506+122insGGGTGTGCC	XP_005263520.1:n.1506+121_1506+122insGGGTGTGCC
XM_011541495.1:c.1872+121_1872+122insGGGTGTGCC	XP_011539797.1:n.1872+121_1872+122insGGGTGTGCC
XM_011541496.1:c.1875+121_1875+122insGGGTGTGCC	XP_011539798.1:n.1875+121_1875+122insGGGTGTGCC
NM_001330358.1:c.1875+121_1875+122insGGGTGTGCC	NP_001317287.1:n.1875+121_1875+122insGGGTGTGCC
XM_005263460.5:c.1752+121_1752+122insGGGTGTGCC	XP_005263517.1:n.1752+121_1752+122insGGGTGTGCC
XM_005263462.4:c.1752+121_1752+122insGGGTGTGCC	XP_005263519.1:n.1752+121_1752+122insGGGTGTGCC
XM_005263463.4:c.1506+121_1506+122insGGGTGTGCC	XP_005263520.1:n.1506+121_1506+122insGGGTGTGCC
XM_011541495.3:c.1872+121_1872+122insGGGTGTGCC	XP_011539797.1:n.1872+121_1872+122insGGGTGTGCC
XM_011541496.3:c.1875+121_1875+122insGGGTGTGCC	XP_011539798.1:n.1875+121_1875+122insGGGTGTGCC
XM_017001328.2:c.1875+121_1875+122insGGGTGTGCC	XP_016856817.1:n.1875+121_1875+122insGGGTGTGCC
XM_024447198.1:c.1506+121_1506+122insGGGTGTGCC	XP_024302966.1:n.1506+121_1506+122insGGGTGTGCC
XR_002956640.1:n.2853+121_2853+122insGGGTGTGCC
NM_005957.5:c.1752+121_1752+122insGGGTGTGCC MANE Select	NP_005948.3:n.1752+121_1752+122insGGGTGTGCC
NM_001330358.2:c.1875+121_1875+122insGGGTGTGCC	NP_001317287.1:n.1875+121_1875+122insGGGTGTGCC