Canonical Allele Identifier: CA2742468762

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800626_11800627insCATTAAAAAAAC , CM000663.2:g.11800626_11800627insCATTAAAAAAAC	GRCh38
NC_000001.10:g.11860683_11860684insCATTAAAAAAAC , CM000663.1:g.11860683_11860684insCATTAAAAAAAC	GRCh37
NC_000001.9:g.11783270_11783271insCATTAAAAAAAC	NCBI36
NG_013351.1:g.10477_10478insGTTTTTTTAATG , LRG_726:g.10477_10478insGTTTTTTTAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.476-305_476-304insGTTTTTTTAATG	ENSP00000365669.3:n.476-305_476-304insGTT...
ENST00000376585.6:c.599-305_599-304insGTTTTTTTAATG	ENSP00000365770.1:n.599-305_599-304insGTT...
ENST00000376590.9:c.476-305_476-304insGTTTTTTTAATG MANE Select	ENSP00000365775.3:n.476-305_476-304insGTT...
ENST00000376592.6:c.476-305_476-304insGTTTTTTTAATG	ENSP00000365777.1:n.476-305_476-304insGTT...
ENST00000423400.7:c.596-305_596-304insGTTTTTTTAATG	ENSP00000398908.3:n.596-305_596-304insGTT...
ENST00000641407.1:c.476-305_476-304insGTTTTTTTAATG	ENSP00000493098.1:n.476-305_476-304insGTT...
ENST00000641437.1:n.1141_1142insGTTTTTTTAATG
ENST00000641446.1:c.476-305_476-304insGTTTTTTTAATG	ENSP00000493262.1:n.476-305_476-304insGTT...
ENST00000641721.1:n.533-305_533-304insGTTTTTTTAATG
ENST00000641747.1:c.237-305_237-304insGTTTTTTTAATG	ENSP00000493116.1:n.237-305_237-304insGTT...
ENST00000641759.1:n.611-305_611-304insGTTTTTTTAATG
ENST00000641805.1:n.759-305_759-304insGTTTTTTTAATG
ENST00000641909.1:n.1419_1420insGTTTTTTTAATG
ENST00000376583.7:c.599-305_599-304insGTTTTTTTAATG	ENSP00000365767.3:n.599-305_599-304insGTT...
ENST00000376585.5:c.599-305_599-304insGTTTTTTTAATG	ENSP00000365770.1:n.599-305_599-304insGTT...
ENST00000376590.7:c.476-305_476-304insGTTTTTTTAATG	ENSP00000365775.3:n.476-305_476-304insGTT...
ENST00000376592.5:c.476-305_476-304insGTTTTTTTAATG	ENSP00000365777.1:n.476-305_476-304insGTT...
NM_005957.4:c.476-305_476-304insGTTTTTTTAATG , LRG_726t1:c.476-305_476-304insGTTTTTTTAATG	NP_005948.3:n.476-305_476-304insGTTTTTTTA...
XM_005263458.2:c.599-305_599-304insGTTTTTTTAATG	XP_005263515.1:n.599-305_599-304insGTTTTT...
XM_005263460.3:c.476-305_476-304insGTTTTTTTAATG	XP_005263517.1:n.476-305_476-304insGTTTTT...
XM_005263461.3:c.476-305_476-304insGTTTTTTTAATG	XP_005263518.1:n.476-305_476-304insGTTTTT...
XM_005263462.3:c.476-305_476-304insGTTTTTTTAATG	XP_005263519.1:n.476-305_476-304insGTTTTT...
XM_005263463.2:c.230-305_230-304insGTTTTTTTAATG	XP_005263520.1:n.230-305_230-304insGTTTTT...
XM_011541495.1:c.596-305_596-304insGTTTTTTTAATG	XP_011539797.1:n.596-305_596-304insGTTTTT...
XM_011541496.1:c.599-305_599-304insGTTTTTTTAATG	XP_011539798.1:n.599-305_599-304insGTTTTT...
NM_001330358.1:c.599-305_599-304insGTTTTTTTAATG	NP_001317287.1:n.599-305_599-304insGTTTTT...
XM_005263460.5:c.476-305_476-304insGTTTTTTTAATG	XP_005263517.1:n.476-305_476-304insGTTTTT...
XM_005263462.4:c.476-305_476-304insGTTTTTTTAATG	XP_005263519.1:n.476-305_476-304insGTTTTT...
XM_005263463.4:c.230-305_230-304insGTTTTTTTAATG	XP_005263520.1:n.230-305_230-304insGTTTTT...
XM_011541495.3:c.596-305_596-304insGTTTTTTTAATG	XP_011539797.1:n.596-305_596-304insGTTTTT...
XM_011541496.3:c.599-305_599-304insGTTTTTTTAATG	XP_011539798.1:n.599-305_599-304insGTTTTT...
XM_017001328.2:c.599-305_599-304insGTTTTTTTAATG	XP_016856817.1:n.599-305_599-304insGTTTTT...
XM_024447198.1:c.230-305_230-304insGTTTTTTTAATG	XP_024302966.1:n.230-305_230-304insGTTTTT...
XR_002956640.1:n.1343-305_1343-304insGTTTTTTTAATG
NM_005957.5:c.476-305_476-304insGTTTTTTTAATG MANE Select	NP_005948.3:n.476-305_476-304insGTTTTTTTA...
NM_001330358.2:c.599-305_599-304insGTTTTTTTAATG	NP_001317287.1:n.599-305_599-304insGTTTTT...