Canonical Allele Identifier: CA521455267

Gene: MTHFR

Linked Data

• gnomAD v2: 1-11850988-ATG-A
• gnomAD v4: 1-11790931-ATG-A
• MyVariant Identifiers: chr1:g.11850989_11850990del (hg19) ; chr1:g.11790932_11790933del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790932_11790933del , CM000663.2:g.11790932_11790933del	GRCh38
NC_000001.10:g.11850989_11850990del , CM000663.1:g.11850989_11850990del	GRCh37
NC_000001.9:g.11773576_11773577del	NCBI36
NG_013351.1:g.20171_20172del , LRG_726:g.20171_20172del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1876-35_1876-34del	ENSP00000365770.1:n.1876-35_1876-34del
ENST00000376590.9:c.1753-35_1753-34del MANE Select	ENSP00000365775.3:n.1753-35_1753-34del
ENST00000376592.6:c.1753-35_1753-34del	ENSP00000365777.1:n.1753-35_1753-34del
ENST00000423400.7:c.1873-35_1873-34del	ENSP00000398908.3:n.1873-35_1873-34del
ENST00000641407.1:c.1753-217_1753-216del	ENSP00000493098.1:n.1753-217_1753-216del
ENST00000641446.1:c.*212-35_*212-34del	ENSP00000493262.1:n.*212-35_*212-34del
ENST00000641747.1:c.*1265-35_*1265-34del	ENSP00000493116.1:n.*1265-35_*1265-34del
ENST00000641759.1:n.2122-35_2122-34del
ENST00000641805.1:n.2270-217_2270-216del
ENST00000641820.1:c.1018-35_1018-34del	ENSP00000492937.1:n.1018-35_1018-34del
ENST00000376583.7:c.1876-35_1876-34del	ENSP00000365767.3:n.1876-35_1876-34del
ENST00000376585.5:c.1876-35_1876-34del	ENSP00000365770.1:n.1876-35_1876-34del
ENST00000376590.7:c.1753-35_1753-34del	ENSP00000365775.3:n.1753-35_1753-34del
ENST00000376592.5:c.1753-35_1753-34del	ENSP00000365777.1:n.1753-35_1753-34del
NM_005957.4:c.1753-35_1753-34del , LRG_726t1:c.1753-35_1753-34del	NP_005948.3:n.1753-35_1753-34del
XM_005263458.2:c.1876-35_1876-34del	XP_005263515.1:n.1876-35_1876-34del
XM_005263460.3:c.1753-35_1753-34del	XP_005263517.1:n.1753-35_1753-34del
XM_005263461.3:c.1753-35_1753-34del	XP_005263518.1:n.1753-35_1753-34del
XM_005263462.3:c.1753-35_1753-34del	XP_005263519.1:n.1753-35_1753-34del
XM_005263463.2:c.1507-35_1507-34del	XP_005263520.1:n.1507-35_1507-34del
XM_011541495.1:c.1873-35_1873-34del	XP_011539797.1:n.1873-35_1873-34del
XM_011541496.1:c.1876-217_1876-216del	XP_011539798.1:n.1876-217_1876-216del
NM_001330358.1:c.1876-35_1876-34del	NP_001317287.1:n.1876-35_1876-34del
XM_005263460.5:c.1753-35_1753-34del	XP_005263517.1:n.1753-35_1753-34del
XM_005263462.4:c.1753-35_1753-34del	XP_005263519.1:n.1753-35_1753-34del
XM_005263463.4:c.1507-35_1507-34del	XP_005263520.1:n.1507-35_1507-34del
XM_011541495.3:c.1873-35_1873-34del	XP_011539797.1:n.1873-35_1873-34del
XM_011541496.3:c.1876-217_1876-216del	XP_011539798.1:n.1876-217_1876-216del
XM_017001328.2:c.1876-185_1876-184del	XP_016856817.1:n.1876-185_1876-184del
XM_024447198.1:c.1507-35_1507-34del	XP_024302966.1:n.1507-35_1507-34del
XR_002956640.1:n.2854-217_2854-216del
NM_005957.5:c.1753-35_1753-34del MANE Select	NP_005948.3:n.1753-35_1753-34del
NM_001330358.2:c.1876-35_1876-34del	NP_001317287.1:n.1876-35_1876-34del