Canonical Allele Identifier: CA2643297498

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11803242-AGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803243_11803246del , CM000663.2:g.11803243_11803246del	GRCh38
NC_000001.10:g.11863300_11863303del , CM000663.1:g.11863300_11863303del	GRCh37
NC_000001.9:g.11785887_11785890del	NCBI36
NG_008766.1:g.2094_2097del
NG_013351.1:g.7858_7861del , LRG_726:g.7858_7861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-120_-10-117del	ENSP00000365669.3:n.-10-120_-10-117del
ENST00000376585.6:c.111-117_111-114del	ENSP00000365770.1:n.111-117_111-114del
ENST00000376590.9:c.-13-117_-13-114del MANE Select	ENSP00000365775.3:n.-13-117_-13-114del
ENST00000376592.6:c.-130_-127del	ENSP00000365777.1:n.-130_-127del
ENST00000423400.7:c.111-120_111-117del	ENSP00000398908.3:n.111-120_111-117del
ENST00000431243.6:n.769-117_769-114del
ENST00000641407.1:c.-130_-127del	ENSP00000493098.1:n.-130_-127del
ENST00000641437.1:n.120-117_120-114del
ENST00000641446.1:c.-13-117_-13-114del	ENSP00000493262.1:n.-13-117_-13-114del
ENST00000641721.1:n.45-117_45-114del
ENST00000641747.1:c.-13-117_-13-114del	ENSP00000493116.1:n.-13-117_-13-114del
ENST00000641759.1:n.123-117_123-114del
ENST00000641805.1:n.274-120_274-117del
ENST00000641909.1:n.281_284del
ENST00000642002.1:n.217-117_217-114del
ENST00000376486.2:c.-13-117_-13-114del	ENSP00000365669.2:n.-13-117_-13-114del
ENST00000376583.7:c.111-117_111-114del	ENSP00000365767.3:n.111-117_111-114del
ENST00000376585.5:c.111-117_111-114del	ENSP00000365770.1:n.111-117_111-114del
ENST00000376590.7:c.-13-117_-13-114del	ENSP00000365775.3:n.-13-117_-13-114del
ENST00000413656.5:c.-13-117_-13-114del	ENSP00000408307.1:n.-13-117_-13-114del
ENST00000418034.1:c.-13-117_-13-114del	ENSP00000405082.1:n.-13-117_-13-114del
ENST00000423400.5:c.-61_-58del	ENSP00000398908.1:n.-61_-58del
ENST00000431243.5:c.-13-117_-13-114del	ENSP00000400460.1:n.-13-117_-13-114del
NM_005957.4:c.-13-117_-13-114del , LRG_726t1:c.-13-117_-13-114del	NP_005948.3:n.-13-117_-13-114del
XM_005263458.2:c.111-117_111-114del	XP_005263515.1:n.111-117_111-114del
XM_005263460.3:c.-13-117_-13-114del	XP_005263517.1:n.-13-117_-13-114del
XM_005263461.3:c.-10-120_-10-117del	XP_005263518.1:n.-10-120_-10-117del
XM_005263462.3:c.-10-120_-10-117del	XP_005263519.1:n.-10-120_-10-117del
XM_005263463.2:c.-276-117_-276-114del	XP_005263520.1:n.-276-117_-276-114del
XM_011541495.1:c.111-120_111-117del	XP_011539797.1:n.111-120_111-117del
XM_011541496.1:c.111-117_111-114del	XP_011539798.1:n.111-117_111-114del
NM_001330358.1:c.111-117_111-114del	NP_001317287.1:n.111-117_111-114del
XM_005263460.5:c.-13-117_-13-114del	XP_005263517.1:n.-13-117_-13-114del
XM_005263462.4:c.-10-120_-10-117del	XP_005263519.1:n.-10-120_-10-117del
XM_005263463.4:c.-276-117_-276-114del	XP_005263520.1:n.-276-117_-276-114del
XM_011541495.3:c.111-120_111-117del	XP_011539797.1:n.111-120_111-117del
XM_011541496.3:c.111-117_111-114del	XP_011539798.1:n.111-117_111-114del
XM_017001328.2:c.111-117_111-114del	XP_016856817.1:n.111-117_111-114del
XM_024447198.1:c.-276-117_-276-114del	XP_024302966.1:n.-276-117_-276-114del
XR_002956640.1:n.858-120_858-117del
NM_005957.5:c.-13-117_-13-114del MANE Select	NP_005948.3:n.-13-117_-13-114del
NM_001330358.2:c.111-117_111-114del	NP_001317287.1:n.111-117_111-114del