Canonical Allele Identifier: CA1153794689

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792442_11792447delinsCTAAGG , CM000663.2:g.11792442_11792447delinsCTAAGG	GRCh38
NC_000001.10:g.11852499_11852504delinsCTAAGG , CM000663.1:g.11852499_11852504delinsCTAAGG	GRCh37
NC_000001.9:g.11775086_11775091delinsCTAAGG	NCBI36
NG_013351.1:g.18657_18662delinsCCTTAG , LRG_726:g.18657_18662delinsCCTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1654-68_1654-63delinsCCTTAG	ENSP00000365770.1:n.1654-68_1654-63delinsCCTTAG
ENST00000376590.9:c.1531-68_1531-63delinsCCTTAG MANE Select	ENSP00000365775.3:n.1531-68_1531-63delinsCCTTAG
ENST00000376592.6:c.1531-68_1531-63delinsCCTTAG	ENSP00000365777.1:n.1531-68_1531-63delinsCCTTAG
ENST00000423400.7:c.1651-68_1651-63delinsCCTTAG	ENSP00000398908.3:n.1651-68_1651-63delinsCCTTAG
ENST00000641407.1:c.1531-68_1531-63delinsCCTTAG	ENSP00000493098.1:n.1531-68_1531-63delinsCCTTAG
ENST00000641446.1:c.1531-68_1531-63delinsCCTTAG	ENSP00000493262.1:n.1531-68_1531-63delinsCCTTAG
ENST00000641747.1:c.*1043-68_*1043-63delinsCCTTAG	ENSP00000493116.1:n.*1043-68_*1043-63delinsCCTTAG
ENST00000641759.1:n.1900-68_1900-63delinsCCTTAG
ENST00000641805.1:n.2048-68_2048-63delinsCCTTAG
ENST00000641820.1:c.796-68_796-63delinsCCTTAG	ENSP00000492937.1:n.796-68_796-63delinsCCTTAG
ENST00000376583.7:c.1654-68_1654-63delinsCCTTAG	ENSP00000365767.3:n.1654-68_1654-63delinsCCTTAG
ENST00000376585.5:c.1654-68_1654-63delinsCCTTAG	ENSP00000365770.1:n.1654-68_1654-63delinsCCTTAG
ENST00000376590.7:c.1531-68_1531-63delinsCCTTAG	ENSP00000365775.3:n.1531-68_1531-63delinsCCTTAG
ENST00000376592.5:c.1531-68_1531-63delinsCCTTAG	ENSP00000365777.1:n.1531-68_1531-63delinsCCTTAG
NM_005957.4:c.1531-68_1531-63delinsCCTTAG , LRG_726t1:c.1531-68_1531-63delinsCCTTAG	NP_005948.3:n.1531-68_1531-63delinsCCTTAG
XM_005263458.2:c.1654-68_1654-63delinsCCTTAG	XP_005263515.1:n.1654-68_1654-63delinsCCTTAG
XM_005263460.3:c.1531-68_1531-63delinsCCTTAG	XP_005263517.1:n.1531-68_1531-63delinsCCTTAG
XM_005263461.3:c.1531-68_1531-63delinsCCTTAG	XP_005263518.1:n.1531-68_1531-63delinsCCTTAG
XM_005263462.3:c.1531-68_1531-63delinsCCTTAG	XP_005263519.1:n.1531-68_1531-63delinsCCTTAG
XM_005263463.2:c.1285-68_1285-63delinsCCTTAG	XP_005263520.1:n.1285-68_1285-63delinsCCTTAG
XM_011541495.1:c.1651-68_1651-63delinsCCTTAG	XP_011539797.1:n.1651-68_1651-63delinsCCTTAG
XM_011541496.1:c.1654-68_1654-63delinsCCTTAG	XP_011539798.1:n.1654-68_1654-63delinsCCTTAG
NM_001330358.1:c.1654-68_1654-63delinsCCTTAG	NP_001317287.1:n.1654-68_1654-63delinsCCTTAG
XM_005263460.5:c.1531-68_1531-63delinsCCTTAG	XP_005263517.1:n.1531-68_1531-63delinsCCTTAG
XM_005263462.4:c.1531-68_1531-63delinsCCTTAG	XP_005263519.1:n.1531-68_1531-63delinsCCTTAG
XM_005263463.4:c.1285-68_1285-63delinsCCTTAG	XP_005263520.1:n.1285-68_1285-63delinsCCTTAG
XM_011541495.3:c.1651-68_1651-63delinsCCTTAG	XP_011539797.1:n.1651-68_1651-63delinsCCTTAG
XM_011541496.3:c.1654-68_1654-63delinsCCTTAG	XP_011539798.1:n.1654-68_1654-63delinsCCTTAG
XM_017001328.2:c.1654-68_1654-63delinsCCTTAG	XP_016856817.1:n.1654-68_1654-63delinsCCTTAG
XM_024447198.1:c.1285-68_1285-63delinsCCTTAG	XP_024302966.1:n.1285-68_1285-63delinsCCTTAG
XR_002956640.1:n.2632-68_2632-63delinsCCTTAG
NM_005957.5:c.1531-68_1531-63delinsCCTTAG MANE Select	NP_005948.3:n.1531-68_1531-63delinsCCTTAG
NM_001330358.2:c.1654-68_1654-63delinsCCTTAG	NP_001317287.1:n.1654-68_1654-63delinsCCTTAG