Canonical Allele Identifier: CA595289

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792321_11792323del , CM000663.2:g.11792321_11792323del	GRCh38
NC_000001.10:g.11852378_11852380del , CM000663.1:g.11852378_11852380del	GRCh37
NC_000001.9:g.11774965_11774967del	NCBI36
NG_013351.1:g.18785_18787del , LRG_726:g.18785_18787del

Transcript Alleles

HGVS	Amino-acid Change
NM_005957.5:c.1591_1593del MANE Select	NP_005948.3:p.Lys531del
ENST00000376590.9:c.1591_1593del MANE Select	ENSP00000365775.3:p.Lys531del
NM_001330358.1:c.1714_1716del	NP_001317287.1:p.Lys572del
NM_001330358.2:c.1714_1716del	NP_001317287.1:p.Lys572del
NM_005957.4:c.1591_1593del , LRG_726t1:c.1591_1593del	NP_005948.3:p.Lys531del
ENST00000376583.7:c.1714_1716del	ENSP00000365767.3:p.Lys572del
ENST00000376585.5:c.1714_1716del	ENSP00000365770.1:p.Lys572del
ENST00000376585.6:c.1714_1716del	ENSP00000365770.1:p.Lys572del
ENST00000376590.7:c.1591_1593del	ENSP00000365775.3:p.Lys531del
ENST00000376592.5:c.1591_1593del	ENSP00000365777.1:p.Lys531del
ENST00000376592.6:c.1591_1593del	ENSP00000365777.1:p.Lys531del
ENST00000423400.7:c.1711_1713del	ENSP00000398908.3:p.Lys571del
ENST00000641407.1:c.1591_1593del	ENSP00000493098.1:p.Lys531del
ENST00000641446.1:c.1591_1593del	ENSP00000493262.1:p.Lys531del
ENST00000641747.1:c.*1103_*1105del	ENSP00000493116.1:n.*1103_*1105del
ENST00000641759.1:n.1960_1962del
ENST00000641805.1:n.2108_2110del
ENST00000641820.1:c.856_858del	ENSP00000492937.1:p.Lys286del
XM_005263458.2:c.1714_1716del	XP_005263515.1:p.Lys572del
XM_005263460.3:c.1591_1593del	XP_005263517.1:p.Lys531del
XM_005263460.5:c.1591_1593del	XP_005263517.1:p.Lys531del
XM_005263461.3:c.1591_1593del	XP_005263518.1:p.Lys531del
XM_005263462.3:c.1591_1593del	XP_005263519.1:p.Lys531del
XM_005263462.4:c.1591_1593del	XP_005263519.1:p.Lys531del
XM_005263463.2:c.1345_1347del	XP_005263520.1:p.Lys449del
XM_005263463.4:c.1345_1347del	XP_005263520.1:p.Lys449del
XM_011541495.1:c.1711_1713del	XP_011539797.1:p.Lys571del
XM_011541495.3:c.1711_1713del	XP_011539797.1:p.Lys571del
XM_011541496.1:c.1714_1716del	XP_011539798.1:p.Lys572del
XM_011541496.3:c.1714_1716del	XP_011539798.1:p.Lys572del
XM_017001328.2:c.1714_1716del	XP_016856817.1:p.Lys572del
XM_024447198.1:c.1345_1347del	XP_024302966.1:p.Lys449del
XR_002956640.1:n.2692_2694del