Canonical Allele Identifier: CA1153789950

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790244_11790246delinsCTT , CM000663.2:g.11790244_11790246delinsCTT	GRCh38
NC_000001.10:g.11850301_11850303delinsCTT , CM000663.1:g.11850301_11850303delinsCTT	GRCh37
NC_000001.9:g.11772888_11772890delinsCTT	NCBI36
NG_013351.1:g.20858_20860delinsAAG , LRG_726:g.20858_20860delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*434_*436delinsAAG	ENSP00000365770.1:n.*434_*436delinsAAG
ENST00000376590.9:c.*434_*436delinsAAG MANE Select	ENSP00000365775.3:n.*434_*436delinsAAG
ENST00000376592.6:c.*434_*436delinsAAG	ENSP00000365777.1:n.*434_*436delinsAAG
ENST00000423400.7:c.*434_*436delinsAAG	ENSP00000398908.3:n.*434_*436delinsAAG
ENST00000641446.1:c.*864_*866delinsAAG	ENSP00000493262.1:n.*864_*866delinsAAG
ENST00000641747.1:c.*1917_*1919delinsAAG	ENSP00000493116.1:n.*1917_*1919delinsAAG
ENST00000641805.1:n.2740_2742delinsAAG
ENST00000376583.7:c.2528_2530delinsAAG	ENSP00000365767.3:n.2528_2530delinsAAG
ENST00000376585.5:c.*434_*436delinsAAG	ENSP00000365770.1:n.*434_*436delinsAAG
ENST00000376590.7:c.*434_*436delinsAAG	ENSP00000365775.3:n.*434_*436delinsAAG
ENST00000376592.5:c.*434_*436delinsAAG	ENSP00000365777.1:n.*434_*436delinsAAG
NM_005957.4:c.*434_*436delinsAAG , LRG_726t1:c.*434_*436delinsAAG	NP_005948.3:n.*434_*436delinsAAG
XM_005263458.2:c.*434_*436delinsAAG	XP_005263515.1:n.*434_*436delinsAAG
XM_005263460.3:c.*434_*436delinsAAG	XP_005263517.1:n.*434_*436delinsAAG
XM_005263461.3:c.*434_*436delinsAAG	XP_005263518.1:n.*434_*436delinsAAG
XM_005263462.3:c.*434_*436delinsAAG	XP_005263519.1:n.*434_*436delinsAAG
XM_005263463.2:c.*434_*436delinsAAG	XP_005263520.1:n.*434_*436delinsAAG
XM_011541495.1:c.*434_*436delinsAAG	XP_011539797.1:n.*434_*436delinsAAG
XM_011541496.1:c.*294_*296delinsAAG	XP_011539798.1:n.*294_*296delinsAAG
NM_001330358.1:c.*434_*436delinsAAG	NP_001317287.1:n.*434_*436delinsAAG
XM_005263460.5:c.*434_*436delinsAAG	XP_005263517.1:n.*434_*436delinsAAG
XM_005263462.4:c.*434_*436delinsAAG	XP_005263519.1:n.*434_*436delinsAAG
XM_005263463.4:c.*434_*436delinsAAG	XP_005263520.1:n.*434_*436delinsAAG
XM_011541495.3:c.*434_*436delinsAAG	XP_011539797.1:n.*434_*436delinsAAG
XM_011541496.3:c.*294_*296delinsAAG	XP_011539798.1:n.*294_*296delinsAAG
XM_024447198.1:c.*434_*436delinsAAG	XP_024302966.1:n.*434_*436delinsAAG
NM_005957.5:c.*434_*436delinsAAG MANE Select	NP_005948.3:n.*434_*436delinsAAG
NM_001330358.2:c.*434_*436delinsAAG	NP_001317287.1:n.*434_*436delinsAAG