Canonical Allele Identifier: CA2742468015

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795188_11795194del , CM000663.2:g.11795188_11795194del	GRCh38
NC_000001.10:g.11855245_11855251del , CM000663.1:g.11855245_11855251del	GRCh37
NC_000001.9:g.11777832_11777838del	NCBI36
NG_013351.1:g.15911_15917del , LRG_726:g.15911_15917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1059_1065del	ENSP00000365770.1:p.Ser353ArgfsTer20
ENST00000376590.9:c.936_942del MANE Select	ENSP00000365775.3:p.Ser312ArgfsTer20
ENST00000376592.6:c.936_942del	ENSP00000365777.1:p.Ser312ArgfsTer20
ENST00000423400.7:c.1056_1062del	ENSP00000398908.3:p.Ser352ArgfsTer20
ENST00000641407.1:c.936_942del	ENSP00000493098.1:p.Ser312ArgfsTer20
ENST00000641446.1:c.936_942del	ENSP00000493262.1:p.Ser312ArgfsTer20
ENST00000641721.1:n.799_805del
ENST00000641747.1:c.*448_*454del	ENSP00000493116.1:n.*448_*454del
ENST00000641759.1:n.1071_1077del
ENST00000641805.1:n.1219_1225del
ENST00000641820.1:c.201_207del	ENSP00000492937.1:p.Ser67ArgfsTer20
ENST00000376583.7:c.1059_1065del	ENSP00000365767.3:p.Ser353ArgfsTer20
ENST00000376585.5:c.1059_1065del	ENSP00000365770.1:p.Ser353ArgfsTer20
ENST00000376590.7:c.936_942del	ENSP00000365775.3:p.Ser312ArgfsTer20
ENST00000376592.5:c.936_942del	ENSP00000365777.1:p.Ser312ArgfsTer20
NM_005957.4:c.936_942del , LRG_726t1:c.936_942del	NP_005948.3:p.Ser312ArgfsTer20
XM_005263458.2:c.1059_1065del	XP_005263515.1:p.Ser353ArgfsTer20
XM_005263460.3:c.936_942del	XP_005263517.1:p.Ser312ArgfsTer20
XM_005263461.3:c.936_942del	XP_005263518.1:p.Ser312ArgfsTer20
XM_005263462.3:c.936_942del	XP_005263519.1:p.Ser312ArgfsTer20
XM_005263463.2:c.690_696del	XP_005263520.1:p.Ser230ArgfsTer20
XM_011541495.1:c.1056_1062del	XP_011539797.1:p.Ser352ArgfsTer20
XM_011541496.1:c.1059_1065del	XP_011539798.1:p.Ser353ArgfsTer20
NM_001330358.1:c.1059_1065del	NP_001317287.1:p.Ser353ArgfsTer20
XM_005263460.5:c.936_942del	XP_005263517.1:p.Ser312ArgfsTer20
XM_005263462.4:c.936_942del	XP_005263519.1:p.Ser312ArgfsTer20
XM_005263463.4:c.690_696del	XP_005263520.1:p.Ser230ArgfsTer20
XM_011541495.3:c.1056_1062del	XP_011539797.1:p.Ser352ArgfsTer20
XM_011541496.3:c.1059_1065del	XP_011539798.1:p.Ser353ArgfsTer20
XM_017001328.2:c.1059_1065del	XP_016856817.1:p.Ser353ArgfsTer20
XM_024447198.1:c.690_696del	XP_024302966.1:p.Ser230ArgfsTer20
XR_002956640.1:n.1803_1809del
NM_005957.5:c.936_942del MANE Select	NP_005948.3:p.Ser312ArgfsTer20
NM_001330358.2:c.1059_1065del	NP_001317287.1:p.Ser353ArgfsTer20