Canonical Allele Identifier: CA1153814873

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805747_11805748delinsAG , CM000663.2:g.11805747_11805748delinsAG	GRCh38
NC_000001.10:g.11865804_11865805delinsAG , CM000663.1:g.11865804_11865805delinsAG	GRCh37
NC_000001.9:g.11788391_11788392delinsAG	NCBI36
NG_008766.1:g.4598_4599delinsAG
NG_013351.1:g.5356_5357delinsCT , LRG_726:g.5356_5357delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.-11+140_-11+141delinsCT	ENSP00000365669.3:n.-11+140_-11+141delins...
ENST00000376590.9:c.-14+140_-14+141delinsCT MANE Select	ENSP00000365775.3:n.-14+140_-14+141delins...
ENST00000641437.1:n.119+140_119+141delinsCT
ENST00000641446.1:c.-14+140_-14+141delinsCT	ENSP00000493262.1:n.-14+140_-14+141delins...
ENST00000641747.1:c.-14+140_-14+141delinsCT	ENSP00000493116.1:n.-14+140_-14+141delins...
ENST00000642002.1:n.216+140_216+141delinsCT
ENST00000376486.2:c.-14+140_-14+141delinsCT	ENSP00000365669.2:n.-14+140_-14+141delins...
ENST00000376590.7:c.-14+140_-14+141delinsCT	ENSP00000365775.3:n.-14+140_-14+141delins...
ENST00000418034.1:c.-415_-414delinsCT	ENSP00000405082.1:n.-415_-414delinsCT
NM_005957.4:c.-14+140_-14+141delinsCT , LRG_726t1:c.-14+140_-14+141delinsCT	NP_005948.3:n.-14+140_-14+141delinsCT
XM_005263460.3:c.-415_-414delinsCT	XP_005263517.1:n.-415_-414delinsCT
XM_005263461.3:c.-412_-411delinsCT	XP_005263518.1:n.-412_-411delinsCT
XM_005263462.3:c.-11+140_-11+141delinsCT	XP_005263519.1:n.-11+140_-11+141delinsCT
XM_005263463.2:c.-277+140_-277+141delinsCT	XP_005263520.1:n.-277+140_-277+141delinsC...
XM_005263460.5:c.-415_-414delinsCT	XP_005263517.1:n.-415_-414delinsCT
XM_005263462.4:c.-11+140_-11+141delinsCT	XP_005263519.1:n.-11+140_-11+141delinsCT
XM_005263463.4:c.-277+140_-277+141delinsCT	XP_005263520.1:n.-277+140_-277+141delinsC...
NM_005957.5:c.-14+140_-14+141delinsCT MANE Select	NP_005948.3:n.-14+140_-14+141delinsCT