Canonical Allele Identifier: CA16602213

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790843del , CM000663.2:g.11790843del	GRCh38
NC_000001.10:g.11850900del , CM000663.1:g.11850900del	GRCh37
NC_000001.9:g.11773487del	NCBI36
NG_013351.1:g.20264del , LRG_726:g.20264del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1934del	ENSP00000365770.1:p.Pro645ArgfsTer?
ENST00000376590.9:c.1811del MANE Select	ENSP00000365775.3:p.Pro604ArgfsTer?
ENST00000376592.6:c.1811del	ENSP00000365777.1:p.Pro604ArgfsTer?
ENST00000423400.7:c.1931del	ENSP00000398908.3:p.Pro644ArgfsTer?
ENST00000641407.1:c.1753-124del	ENSP00000493098.1:n.1753-124del
ENST00000641446.1:c.*270del	ENSP00000493262.1:n.*270del
ENST00000641747.1:c.*1323del	ENSP00000493116.1:n.*1323del
ENST00000641759.1:n.2180del
ENST00000641805.1:n.2270-124del
ENST00000641820.1:c.1076del	ENSP00000492937.1:p.Pro359ArgfsTer?
ENST00000376583.7:c.1934del	ENSP00000365767.3:p.Pro645ArgfsTer?
ENST00000376585.5:c.1934del	ENSP00000365770.1:p.Pro645ArgfsTer?
ENST00000376590.7:c.1811del	ENSP00000365775.3:p.Pro604ArgfsTer?
ENST00000376592.5:c.1811del	ENSP00000365777.1:p.Pro604ArgfsTer?
NM_005957.4:c.1811del , LRG_726t1:c.1811del	NP_005948.3:p.Pro604ArgfsTer?
XM_005263458.2:c.1934del	XP_005263515.1:p.Pro645ArgfsTer?
XM_005263460.3:c.1811del	XP_005263517.1:p.Pro604ArgfsTer?
XM_005263461.3:c.1811del	XP_005263518.1:p.Pro604ArgfsTer?
XM_005263462.3:c.1811del	XP_005263519.1:p.Pro604ArgfsTer?
XM_005263463.2:c.1565del	XP_005263520.1:p.Pro522ArgfsTer?
XM_011541495.1:c.1931del	XP_011539797.1:p.Pro644ArgfsTer?
XM_011541496.1:c.1876-124del	XP_011539798.1:n.1876-124del
NM_001330358.1:c.1934del	NP_001317287.1:p.Pro645ArgfsTer?
XM_005263460.5:c.1811del	XP_005263517.1:p.Pro604ArgfsTer?
XM_005263462.4:c.1811del	XP_005263519.1:p.Pro604ArgfsTer?
XM_005263463.4:c.1565del	XP_005263520.1:p.Pro522ArgfsTer?
XM_011541495.3:c.1931del	XP_011539797.1:p.Pro644ArgfsTer?
XM_011541496.3:c.1876-124del	XP_011539798.1:n.1876-124del
XM_017001328.2:c.1876-92del	XP_016856817.1:n.1876-92del
XM_024447198.1:c.1565del	XP_024302966.1:p.Pro522ArgfsTer?
XR_002956640.1:n.2854-124del
NM_005957.5:c.1811del MANE Select	NP_005948.3:p.Pro604ArgfsTer?
NM_001330358.2:c.1934del	NP_001317287.1:p.Pro645ArgfsTer?