Canonical Allele Identifier: CA1153791374

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790853_11790854delinsCA , CM000663.2:g.11790853_11790854delinsCA	GRCh38
NC_000001.10:g.11850910_11850911delinsCA , CM000663.1:g.11850910_11850911delinsCA	GRCh37
NC_000001.9:g.11773497_11773498delinsCA	NCBI36
NG_013351.1:g.20250_20251delinsTG , LRG_726:g.20250_20251delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1920_1921delinsTG	ENSP00000365770.1:p.Tyr640=
ENST00000376590.9:c.1797_1798delinsTG MANE Select	ENSP00000365775.3:p.Tyr599=
ENST00000376592.6:c.1797_1798delinsTG	ENSP00000365777.1:p.Tyr599=
ENST00000423400.7:c.1917_1918delinsTG	ENSP00000398908.3:p.Tyr639=
ENST00000641407.1:c.1753-138_1753-137delinsTG	ENSP00000493098.1:n.1753-138_1753-137deli...
ENST00000641446.1:c.*256_*257delinsTG	ENSP00000493262.1:n.*256_*257delinsTG
ENST00000641747.1:c.*1309_*1310delinsTG	ENSP00000493116.1:n.*1309_*1310delinsTG
ENST00000641759.1:n.2166_2167delinsTG
ENST00000641805.1:n.2270-138_2270-137delinsTG
ENST00000641820.1:c.1062_1063delinsTG	ENSP00000492937.1:p.Tyr354=
ENST00000376583.7:c.1920_1921delinsTG	ENSP00000365767.3:p.Tyr640=
ENST00000376585.5:c.1920_1921delinsTG	ENSP00000365770.1:p.Tyr640=
ENST00000376590.7:c.1797_1798delinsTG	ENSP00000365775.3:p.Tyr599=
ENST00000376592.5:c.1797_1798delinsTG	ENSP00000365777.1:p.Tyr599=
NM_005957.4:c.1797_1798delinsTG , LRG_726t1:c.1797_1798delinsTG	NP_005948.3:p.Tyr599=
XM_005263458.2:c.1920_1921delinsTG	XP_005263515.1:p.Tyr640=
XM_005263460.3:c.1797_1798delinsTG	XP_005263517.1:p.Tyr599=
XM_005263461.3:c.1797_1798delinsTG	XP_005263518.1:p.Tyr599=
XM_005263462.3:c.1797_1798delinsTG	XP_005263519.1:p.Tyr599=
XM_005263463.2:c.1551_1552delinsTG	XP_005263520.1:p.Tyr517=
XM_011541495.1:c.1917_1918delinsTG	XP_011539797.1:p.Tyr639=
XM_011541496.1:c.1876-138_1876-137delinsTG	XP_011539798.1:n.1876-138_1876-137delinsT...
NM_001330358.1:c.1920_1921delinsTG	NP_001317287.1:p.Tyr640=
XM_005263460.5:c.1797_1798delinsTG	XP_005263517.1:p.Tyr599=
XM_005263462.4:c.1797_1798delinsTG	XP_005263519.1:p.Tyr599=
XM_005263463.4:c.1551_1552delinsTG	XP_005263520.1:p.Tyr517=
XM_011541495.3:c.1917_1918delinsTG	XP_011539797.1:p.Tyr639=
XM_011541496.3:c.1876-138_1876-137delinsTG	XP_011539798.1:n.1876-138_1876-137delinsT...
XM_017001328.2:c.1876-106_1876-105delinsTG	XP_016856817.1:n.1876-106_1876-105delinsT...
XM_024447198.1:c.1551_1552delinsTG	XP_024302966.1:p.Tyr517=
XR_002956640.1:n.2854-138_2854-137delinsTG
NM_005957.5:c.1797_1798delinsTG MANE Select	NP_005948.3:p.Tyr599=
NM_001330358.2:c.1920_1921delinsTG	NP_001317287.1:p.Tyr640=