Canonical Allele Identifier: CA2742481464

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803005_11803017del , CM000663.2:g.11803005_11803017del	GRCh38
NC_000001.10:g.11863062_11863074del , CM000663.1:g.11863062_11863074del	GRCh37
NC_000001.9:g.11785649_11785661del	NCBI36
NG_008766.1:g.1856_1868del
NG_013351.1:g.8093_8105del , LRG_726:g.8093_8105del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.106_118del	ENSP00000365669.3:p.Gly36SerfsTer10
ENST00000376585.6:c.229_241del	ENSP00000365770.1:p.Gly77SerfsTer10
ENST00000376590.9:c.106_118del MANE Select	ENSP00000365775.3:p.Gly36SerfsTer10
ENST00000376592.6:c.106_118del	ENSP00000365777.1:p.Gly36SerfsTer10
ENST00000423400.7:c.226_238del	ENSP00000398908.3:p.Gly76SerfsTer10
ENST00000431243.6:n.887_899del
ENST00000641407.1:c.106_118del	ENSP00000493098.1:p.Gly36SerfsTer10
ENST00000641437.1:n.238_250del
ENST00000641446.1:c.106_118del	ENSP00000493262.1:p.Gly36SerfsTer10
ENST00000641721.1:n.163_175del
ENST00000641747.1:c.106_118del	ENSP00000493116.1:p.Gly36SerfsTer10
ENST00000641759.1:n.241_253del
ENST00000641805.1:n.389_401del
ENST00000641909.1:n.516_528del
ENST00000642002.1:n.335_347del
ENST00000376583.7:c.229_241del	ENSP00000365767.3:p.Gly77SerfsTer10
ENST00000376585.5:c.229_241del	ENSP00000365770.1:p.Gly77SerfsTer10
ENST00000376590.7:c.106_118del	ENSP00000365775.3:p.Gly36SerfsTer10
ENST00000376592.5:c.106_118del	ENSP00000365777.1:p.Gly36SerfsTer10
ENST00000418034.1:c.106_118del	ENSP00000405082.1:p.Gly36SerfsTer10
NM_005957.4:c.106_118del , LRG_726t1:c.106_118del	NP_005948.3:p.Gly36SerfsTer10
XM_005263458.2:c.229_241del	XP_005263515.1:p.Gly77SerfsTer10
XM_005263460.3:c.106_118del	XP_005263517.1:p.Gly36SerfsTer10
XM_005263461.3:c.106_118del	XP_005263518.1:p.Gly36SerfsTer10
XM_005263462.3:c.106_118del	XP_005263519.1:p.Gly36SerfsTer10
XM_005263463.2:c.-158_-146del	XP_005263520.1:n.-158_-146del
XM_011541495.1:c.226_238del	XP_011539797.1:p.Gly76SerfsTer10
XM_011541496.1:c.229_241del	XP_011539798.1:p.Gly77SerfsTer10
NM_001330358.1:c.229_241del	NP_001317287.1:p.Gly77SerfsTer10
XM_005263460.5:c.106_118del	XP_005263517.1:p.Gly36SerfsTer10
XM_005263462.4:c.106_118del	XP_005263519.1:p.Gly36SerfsTer10
XM_005263463.4:c.-158_-146del	XP_005263520.1:n.-158_-146del
XM_011541495.3:c.226_238del	XP_011539797.1:p.Gly76SerfsTer10
XM_011541496.3:c.229_241del	XP_011539798.1:p.Gly77SerfsTer10
XM_017001328.2:c.229_241del	XP_016856817.1:p.Gly77SerfsTer10
XM_024447198.1:c.-158_-146del	XP_024302966.1:n.-158_-146del
XR_002956640.1:n.973_985del
NM_005957.5:c.106_118del MANE Select	NP_005948.3:p.Gly36SerfsTer10
NM_001330358.2:c.229_241del	NP_001317287.1:p.Gly77SerfsTer10