Canonical Allele Identifier: CA2643305692

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11805755-GGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805758_11805760del , CM000663.2:g.11805758_11805760del	GRCh38
NC_000001.10:g.11865815_11865817del , CM000663.1:g.11865815_11865817del	GRCh37
NC_000001.9:g.11788402_11788404del	NCBI36
NG_008766.1:g.4609_4611del
NG_013351.1:g.5346_5348del , LRG_726:g.5346_5348del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.-11+130_-11+132del	ENSP00000365669.3:n.-11+130_-11+132del
ENST00000376590.9:c.-14+130_-14+132del MANE Select	ENSP00000365775.3:n.-14+130_-14+132del
ENST00000641437.1:n.119+130_119+132del
ENST00000641446.1:c.-14+130_-14+132del	ENSP00000493262.1:n.-14+130_-14+132del
ENST00000641747.1:c.-14+130_-14+132del	ENSP00000493116.1:n.-14+130_-14+132del
ENST00000642002.1:n.216+130_216+132del
ENST00000376486.2:c.-14+130_-14+132del	ENSP00000365669.2:n.-14+130_-14+132del
ENST00000376590.7:c.-14+130_-14+132del	ENSP00000365775.3:n.-14+130_-14+132del
ENST00000418034.1:c.-425_-423del	ENSP00000405082.1:n.-425_-423del
NM_005957.4:c.-14+130_-14+132del , LRG_726t1:c.-14+130_-14+132del	NP_005948.3:n.-14+130_-14+132del
XM_005263460.3:c.-425_-423del	XP_005263517.1:n.-425_-423del
XM_005263461.3:c.-422_-420del	XP_005263518.1:n.-422_-420del
XM_005263462.3:c.-11+130_-11+132del	XP_005263519.1:n.-11+130_-11+132del
XM_005263463.2:c.-277+130_-277+132del	XP_005263520.1:n.-277+130_-277+132del
XM_005263460.5:c.-425_-423del	XP_005263517.1:n.-425_-423del
XM_005263462.4:c.-11+130_-11+132del	XP_005263519.1:n.-11+130_-11+132del
XM_005263463.4:c.-277+130_-277+132del	XP_005263520.1:n.-277+130_-277+132del
NM_005957.5:c.-14+130_-14+132del MANE Select	NP_005948.3:n.-14+130_-14+132del