Canonical Allele Identifier: CA2643296542

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11796084-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796088_11796089del , CM000663.2:g.11796088_11796089del	GRCh38
NC_000001.10:g.11856145_11856146del , CM000663.1:g.11856145_11856146del	GRCh37
NC_000001.9:g.11778732_11778733del	NCBI36
NG_013351.1:g.15018_15019del , LRG_726:g.15018_15019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.903+120_903+121del	ENSP00000365770.1:n.903+120_903+121del
ENST00000376590.9:c.780+120_780+121del MANE Select	ENSP00000365775.3:n.780+120_780+121del
ENST00000376592.6:c.780+120_780+121del	ENSP00000365777.1:n.780+120_780+121del
ENST00000423400.7:c.900+120_900+121del	ENSP00000398908.3:n.900+120_900+121del
ENST00000641407.1:c.780+120_780+121del	ENSP00000493098.1:n.780+120_780+121del
ENST00000641446.1:c.780+120_780+121del	ENSP00000493262.1:n.780+120_780+121del
ENST00000641721.1:n.644-738_644-737del
ENST00000641747.1:c.*292+120_*292+121del	ENSP00000493116.1:n.*292+120_*292+121del
ENST00000641759.1:n.915+120_915+121del
ENST00000641805.1:n.1063+120_1063+121del
ENST00000641820.1:c.45+120_45+121del	ENSP00000492937.1:n.45+120_45+121del
ENST00000376583.7:c.903+120_903+121del	ENSP00000365767.3:n.903+120_903+121del
ENST00000376585.5:c.903+120_903+121del	ENSP00000365770.1:n.903+120_903+121del
ENST00000376590.7:c.780+120_780+121del	ENSP00000365775.3:n.780+120_780+121del
ENST00000376592.5:c.780+120_780+121del	ENSP00000365777.1:n.780+120_780+121del
NM_005957.4:c.780+120_780+121del , LRG_726t1:c.780+120_780+121del	NP_005948.3:n.780+120_780+121del
XM_005263458.2:c.903+120_903+121del	XP_005263515.1:n.903+120_903+121del
XM_005263460.3:c.780+120_780+121del	XP_005263517.1:n.780+120_780+121del
XM_005263461.3:c.780+120_780+121del	XP_005263518.1:n.780+120_780+121del
XM_005263462.3:c.780+120_780+121del	XP_005263519.1:n.780+120_780+121del
XM_005263463.2:c.534+120_534+121del	XP_005263520.1:n.534+120_534+121del
XM_011541495.1:c.900+120_900+121del	XP_011539797.1:n.900+120_900+121del
XM_011541496.1:c.903+120_903+121del	XP_011539798.1:n.903+120_903+121del
NM_001330358.1:c.903+120_903+121del	NP_001317287.1:n.903+120_903+121del
XM_005263460.5:c.780+120_780+121del	XP_005263517.1:n.780+120_780+121del
XM_005263462.4:c.780+120_780+121del	XP_005263519.1:n.780+120_780+121del
XM_005263463.4:c.534+120_534+121del	XP_005263520.1:n.534+120_534+121del
XM_011541495.3:c.900+120_900+121del	XP_011539797.1:n.900+120_900+121del
XM_011541496.3:c.903+120_903+121del	XP_011539798.1:n.903+120_903+121del
XM_017001328.2:c.903+120_903+121del	XP_016856817.1:n.903+120_903+121del
XM_024447198.1:c.534+120_534+121del	XP_024302966.1:n.534+120_534+121del
XR_002956640.1:n.1647+120_1647+121del
NM_005957.5:c.780+120_780+121del MANE Select	NP_005948.3:n.780+120_780+121del
NM_001330358.2:c.903+120_903+121del	NP_001317287.1:n.903+120_903+121del