Canonical Allele Identifier: CA1153814727

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805638_11805656delinsGGGGCCCCTCCGTCCAGGC , CM000663.2:g.11805638_11805656delinsGGGGCCCCTCCGTCCAGGC	GRCh38
NC_000001.10:g.11865695_11865713delinsGGGGCCCCTCCGTCCAGGC , CM000663.1:g.11865695_11865713delinsGGGGCCCCTCCGTCCAGGC	GRCh37
NC_000001.9:g.11788282_11788300delinsGGGGCCCCTCCGTCCAGGC	NCBI36
NG_008766.1:g.4489_4507delinsGGGGCCCCTCCGTCCAGGC
NG_013351.1:g.5448_5466delinsGCCTGGACGGAGGGGCCCC , LRG_726:g.5448_5466delinsGCCTGGACGGAGGGGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC	ENSP00000365669.3:n.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC
ENST00000376590.9:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC MANE Select	ENSP00000365775.3:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
ENST00000641437.1:n.119+232_119+250delinsGCCTGGACGGAGGGGCCCC
ENST00000641446.1:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC	ENSP00000493262.1:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
ENST00000641747.1:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC	ENSP00000493116.1:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
ENST00000642002.1:n.216+232_216+250delinsGCCTGGACGGAGGGGCCCC
ENST00000376486.2:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC	ENSP00000365669.2:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
ENST00000376590.7:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC	ENSP00000365775.3:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
ENST00000418034.1:c.-323_-305delinsGCCTGGACGGAGGGGCCCC	ENSP00000405082.1:n.-323_-305delinsGCCTGGACGGAGGGGCCCC
NM_005957.4:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC , LRG_726t1:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC	NP_005948.3:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC
XM_005263460.3:c.-323_-305delinsGCCTGGACGGAGGGGCCCC	XP_005263517.1:n.-323_-305delinsGCCTGGACGGAGGGGCCCC
XM_005263461.3:c.-320_-302delinsGCCTGGACGGAGGGGCCCC	XP_005263518.1:n.-320_-302delinsGCCTGGACGGAGGGGCCCC
XM_005263462.3:c.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC	XP_005263519.1:n.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC
XM_005263463.2:c.-277+232_-277+250delinsGCCTGGACGGAGGGGCCCC	XP_005263520.1:n.-277+232_-277+250delinsGCCTGGACGGAGGGGCCCC
XM_005263460.5:c.-323_-305delinsGCCTGGACGGAGGGGCCCC	XP_005263517.1:n.-323_-305delinsGCCTGGACGGAGGGGCCCC
XM_005263462.4:c.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC	XP_005263519.1:n.-11+232_-11+250delinsGCCTGGACGGAGGGGCCCC
XM_005263463.4:c.-277+232_-277+250delinsGCCTGGACGGAGGGGCCCC	XP_005263520.1:n.-277+232_-277+250delinsGCCTGGACGGAGGGGCCCC
NM_005957.5:c.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC MANE Select	NP_005948.3:n.-14+232_-14+250delinsGCCTGGACGGAGGGGCCCC