Canonical Allele Identifier: CA1153790226

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790472_11790474delinsCAG , CM000663.2:g.11790472_11790474delinsCAG	GRCh38
NC_000001.10:g.11850529_11850531delinsCAG , CM000663.1:g.11850529_11850531delinsCAG	GRCh37
NC_000001.9:g.11773116_11773118delinsCAG	NCBI36
NG_013351.1:g.20630_20632delinsCTG , LRG_726:g.20630_20632delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*206_*208delinsCTG	ENSP00000365770.1:n.*206_*208delinsCTG
ENST00000376590.9:c.*206_*208delinsCTG MANE Select	ENSP00000365775.3:n.*206_*208delinsCTG
ENST00000376592.6:c.*206_*208delinsCTG	ENSP00000365777.1:n.*206_*208delinsCTG
ENST00000423400.7:c.*206_*208delinsCTG	ENSP00000398908.3:n.*206_*208delinsCTG
ENST00000641407.1:c.*66_*68delinsCTG	ENSP00000493098.1:n.*66_*68delinsCTG
ENST00000641446.1:c.*636_*638delinsCTG	ENSP00000493262.1:n.*636_*638delinsCTG
ENST00000641747.1:c.*1689_*1691delinsCTG	ENSP00000493116.1:n.*1689_*1691delinsCTG
ENST00000641805.1:n.2512_2514delinsCTG
ENST00000376583.7:c.2300_2302delinsCTG	ENSP00000365767.3:n.2300_2302delinsCTG
ENST00000376585.5:c.*206_*208delinsCTG	ENSP00000365770.1:n.*206_*208delinsCTG
ENST00000376590.7:c.*206_*208delinsCTG	ENSP00000365775.3:n.*206_*208delinsCTG
ENST00000376592.5:c.*206_*208delinsCTG	ENSP00000365777.1:n.*206_*208delinsCTG
NM_005957.4:c.*206_*208delinsCTG , LRG_726t1:c.*206_*208delinsCTG	NP_005948.3:n.*206_*208delinsCTG
XM_005263458.2:c.*206_*208delinsCTG	XP_005263515.1:n.*206_*208delinsCTG
XM_005263460.3:c.*206_*208delinsCTG	XP_005263517.1:n.*206_*208delinsCTG
XM_005263461.3:c.*206_*208delinsCTG	XP_005263518.1:n.*206_*208delinsCTG
XM_005263462.3:c.*206_*208delinsCTG	XP_005263519.1:n.*206_*208delinsCTG
XM_005263463.2:c.*206_*208delinsCTG	XP_005263520.1:n.*206_*208delinsCTG
XM_011541495.1:c.*206_*208delinsCTG	XP_011539797.1:n.*206_*208delinsCTG
XM_011541496.1:c.*66_*68delinsCTG	XP_011539798.1:n.*66_*68delinsCTG
NM_001330358.1:c.*206_*208delinsCTG	NP_001317287.1:n.*206_*208delinsCTG
XM_005263460.5:c.*206_*208delinsCTG	XP_005263517.1:n.*206_*208delinsCTG
XM_005263462.4:c.*206_*208delinsCTG	XP_005263519.1:n.*206_*208delinsCTG
XM_005263463.4:c.*206_*208delinsCTG	XP_005263520.1:n.*206_*208delinsCTG
XM_011541495.3:c.*206_*208delinsCTG	XP_011539797.1:n.*206_*208delinsCTG
XM_011541496.3:c.*66_*68delinsCTG	XP_011539798.1:n.*66_*68delinsCTG
XM_024447198.1:c.*206_*208delinsCTG	XP_024302966.1:n.*206_*208delinsCTG
XR_002956640.1:n.3096_3098delinsCTG
NM_005957.5:c.*206_*208delinsCTG MANE Select	NP_005948.3:n.*206_*208delinsCTG
NM_001330358.2:c.*206_*208delinsCTG	NP_001317287.1:n.*206_*208delinsCTG