Canonical Allele Identifier: CA2643297506

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11803243-GGCCAAAAAAGGTGACACT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803247_11803264del , CM000663.2:g.11803247_11803264del	GRCh38
NC_000001.10:g.11863304_11863321del , CM000663.1:g.11863304_11863321del	GRCh37
NC_000001.9:g.11785891_11785908del	NCBI36
NG_008766.1:g.2098_2115del
NG_013351.1:g.7843_7860del , LRG_726:g.7843_7860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-10-135_-10-118del	ENSP00000365669.3:n.-10-135_-10-118del
ENST00000376585.6:c.111-132_111-115del	ENSP00000365770.1:n.111-132_111-115del
ENST00000376590.9:c.-13-132_-13-115del MANE Select	ENSP00000365775.3:n.-13-132_-13-115del
ENST00000376592.6:c.-145_-128del	ENSP00000365777.1:n.-145_-128del
ENST00000423400.7:c.111-135_111-118del	ENSP00000398908.3:n.111-135_111-118del
ENST00000431243.6:n.769-132_769-115del
ENST00000641407.1:c.-145_-128del	ENSP00000493098.1:n.-145_-128del
ENST00000641437.1:n.120-132_120-115del
ENST00000641446.1:c.-13-132_-13-115del	ENSP00000493262.1:n.-13-132_-13-115del
ENST00000641721.1:n.45-132_45-115del
ENST00000641747.1:c.-13-132_-13-115del	ENSP00000493116.1:n.-13-132_-13-115del
ENST00000641759.1:n.123-132_123-115del
ENST00000641805.1:n.274-135_274-118del
ENST00000641909.1:n.266_283del
ENST00000642002.1:n.217-132_217-115del
ENST00000376486.2:c.-13-132_-13-115del	ENSP00000365669.2:n.-13-132_-13-115del
ENST00000376583.7:c.111-132_111-115del	ENSP00000365767.3:n.111-132_111-115del
ENST00000376585.5:c.111-132_111-115del	ENSP00000365770.1:n.111-132_111-115del
ENST00000376590.7:c.-13-132_-13-115del	ENSP00000365775.3:n.-13-132_-13-115del
ENST00000413656.5:c.-13-132_-13-115del	ENSP00000408307.1:n.-13-132_-13-115del
ENST00000418034.1:c.-13-132_-13-115del	ENSP00000405082.1:n.-13-132_-13-115del
ENST00000423400.5:c.-76_-59del	ENSP00000398908.1:n.-76_-59del
ENST00000431243.5:c.-13-132_-13-115del	ENSP00000400460.1:n.-13-132_-13-115del
NM_005957.4:c.-13-132_-13-115del , LRG_726t1:c.-13-132_-13-115del	NP_005948.3:n.-13-132_-13-115del
XM_005263458.2:c.111-132_111-115del	XP_005263515.1:n.111-132_111-115del
XM_005263460.3:c.-13-132_-13-115del	XP_005263517.1:n.-13-132_-13-115del
XM_005263461.3:c.-10-135_-10-118del	XP_005263518.1:n.-10-135_-10-118del
XM_005263462.3:c.-10-135_-10-118del	XP_005263519.1:n.-10-135_-10-118del
XM_005263463.2:c.-276-132_-276-115del	XP_005263520.1:n.-276-132_-276-115del
XM_011541495.1:c.111-135_111-118del	XP_011539797.1:n.111-135_111-118del
XM_011541496.1:c.111-132_111-115del	XP_011539798.1:n.111-132_111-115del
NM_001330358.1:c.111-132_111-115del	NP_001317287.1:n.111-132_111-115del
XM_005263460.5:c.-13-132_-13-115del	XP_005263517.1:n.-13-132_-13-115del
XM_005263462.4:c.-10-135_-10-118del	XP_005263519.1:n.-10-135_-10-118del
XM_005263463.4:c.-276-132_-276-115del	XP_005263520.1:n.-276-132_-276-115del
XM_011541495.3:c.111-135_111-118del	XP_011539797.1:n.111-135_111-118del
XM_011541496.3:c.111-132_111-115del	XP_011539798.1:n.111-132_111-115del
XM_017001328.2:c.111-132_111-115del	XP_016856817.1:n.111-132_111-115del
XM_024447198.1:c.-276-132_-276-115del	XP_024302966.1:n.-276-132_-276-115del
XR_002956640.1:n.858-135_858-118del
NM_005957.5:c.-13-132_-13-115del MANE Select	NP_005948.3:n.-13-132_-13-115del
NM_001330358.2:c.111-132_111-115del	NP_001317287.1:n.111-132_111-115del