Canonical Allele Identifier: CA1153807154

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801914_11801916delinsACT , CM000663.2:g.11801914_11801916delinsACT	GRCh38
NC_000001.10:g.11861971_11861973delinsACT , CM000663.1:g.11861971_11861973delinsACT	GRCh37
NC_000001.9:g.11784558_11784560delinsACT	NCBI36
NG_008766.1:g.765_767delinsACT
NG_013351.1:g.9188_9190delinsAGT , LRG_726:g.9188_9190delinsAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.237-517_237-515delinsAGT	ENSP00000365669.3:n.237-517_237-515delins...
ENST00000376585.6:c.360-517_360-515delinsAGT	ENSP00000365770.1:n.360-517_360-515delins...
ENST00000376590.9:c.237-517_237-515delinsAGT MANE Select	ENSP00000365775.3:n.237-517_237-515delins...
ENST00000376592.6:c.237-517_237-515delinsAGT	ENSP00000365777.1:n.237-517_237-515delins...
ENST00000423400.7:c.357-517_357-515delinsAGT	ENSP00000398908.3:n.357-517_357-515delins...
ENST00000431243.6:n.1018-500_1018-498delinsAGT
ENST00000641407.1:c.237-517_237-515delinsAGT	ENSP00000493098.1:n.237-517_237-515delins...
ENST00000641437.1:n.369-517_369-515delinsAGT
ENST00000641446.1:c.237-517_237-515delinsAGT	ENSP00000493262.1:n.237-517_237-515delins...
ENST00000641721.1:n.294-517_294-515delinsAGT
ENST00000641747.1:c.236+965_236+967delinsAGT	ENSP00000493116.1:n.236+965_236+967delins...
ENST00000641759.1:n.372-517_372-515delinsAGT
ENST00000641805.1:n.520-517_520-515delinsAGT
ENST00000641909.1:n.647-517_647-515delinsAGT
ENST00000642002.1:n.466-500_466-498delinsAGT
ENST00000376583.7:c.360-517_360-515delinsAGT	ENSP00000365767.3:n.360-517_360-515delins...
ENST00000376585.5:c.360-517_360-515delinsAGT	ENSP00000365770.1:n.360-517_360-515delins...
ENST00000376590.7:c.237-517_237-515delinsAGT	ENSP00000365775.3:n.237-517_237-515delins...
ENST00000376592.5:c.237-517_237-515delinsAGT	ENSP00000365777.1:n.237-517_237-515delins...
ENST00000418034.1:c.237-517_237-515delinsAGT	ENSP00000405082.1:n.237-517_237-515delins...
NM_005957.4:c.237-517_237-515delinsAGT , LRG_726t1:c.237-517_237-515delinsAGT	NP_005948.3:n.237-517_237-515delinsAGT
XM_005263458.2:c.360-517_360-515delinsAGT	XP_005263515.1:n.360-517_360-515delinsAGT...
XM_005263460.3:c.237-517_237-515delinsAGT	XP_005263517.1:n.237-517_237-515delinsAGT...
XM_005263461.3:c.237-517_237-515delinsAGT	XP_005263518.1:n.237-517_237-515delinsAGT...
XM_005263462.3:c.237-517_237-515delinsAGT	XP_005263519.1:n.237-517_237-515delinsAGT...
XM_005263463.2:c.-27-500_-27-498delinsAGT	XP_005263520.1:n.-27-500_-27-498delinsAGT...
XM_011541495.1:c.357-517_357-515delinsAGT	XP_011539797.1:n.357-517_357-515delinsAGT...
XM_011541496.1:c.360-517_360-515delinsAGT	XP_011539798.1:n.360-517_360-515delinsAGT...
NM_001330358.1:c.360-517_360-515delinsAGT	NP_001317287.1:n.360-517_360-515delinsAGT...
XM_005263460.5:c.237-517_237-515delinsAGT	XP_005263517.1:n.237-517_237-515delinsAGT...
XM_005263462.4:c.237-517_237-515delinsAGT	XP_005263519.1:n.237-517_237-515delinsAGT...
XM_005263463.4:c.-27-500_-27-498delinsAGT	XP_005263520.1:n.-27-500_-27-498delinsAGT...
XM_011541495.3:c.357-517_357-515delinsAGT	XP_011539797.1:n.357-517_357-515delinsAGT...
XM_011541496.3:c.360-517_360-515delinsAGT	XP_011539798.1:n.360-517_360-515delinsAGT...
XM_017001328.2:c.360-517_360-515delinsAGT	XP_016856817.1:n.360-517_360-515delinsAGT...
XM_024447198.1:c.-27-500_-27-498delinsAGT	XP_024302966.1:n.-27-500_-27-498delinsAGT...
XR_002956640.1:n.1104-517_1104-515delinsAGT
NM_005957.5:c.237-517_237-515delinsAGT MANE Select	NP_005948.3:n.237-517_237-515delinsAGT
NM_001330358.2:c.360-517_360-515delinsAGT	NP_001317287.1:n.360-517_360-515delinsAGT...