Canonical Allele Identifier: CA2586966067
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790843_11790854delinsCACTCCTCCTAC , CM000663.2:g.11790843_11790854delinsCACTCCTCCTAC GRCh38
NC_000001.10:g.11850900_11850911delinsCACTCCTCCTAC , CM000663.1:g.11850900_11850911delinsCACTCCTCCTAC GRCh37
NC_000001.9:g.11773487_11773498delinsCACTCCTCCTAC NCBI36
NG_013351.1:g.20250_20261delinsGTAGGAGGAGTG , LRG_726:g.20250_20261delinsGTAGGAGGAGTG

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.1920_1931delinsGTAGGAGGAGTG ENSP00000365770.1:p.Tyr640Ter
ENST00000376590.9:c.1797_1808delinsGTAGGAGGAGTG MANE Select ENSP00000365775.3:p.Tyr599Ter
ENST00000376592.6:c.1797_1808delinsGTAGGAGGAGTG ENSP00000365777.1:p.Tyr599Ter
ENST00000423400.7:c.1917_1928delinsGTAGGAGGAGTG ENSP00000398908.3:p.Tyr639Ter
ENST00000641407.1:c.1753-138_1753-127delinsGTAGGAGGAGTG ENSP00000493098.1:n.1753-138_1753-127deli...
ENST00000641446.1:c.*256_*267delinsGTAGGAGGAGTG ENSP00000493262.1:n.*256_*267delinsGTAGGA...
ENST00000641747.1:c.*1309_*1320delinsGTAGGAGGAGTG ENSP00000493116.1:n.*1309_*1320delinsGTAG...
ENST00000641759.1:n.2166_2177delinsGTAGGAGGAGTG
ENST00000641805.1:n.2270-138_2270-127delinsGTAGGAGGAGTG
ENST00000641820.1:c.1062_1073delinsGTAGGAGGAGTG ENSP00000492937.1:p.Tyr354Ter
ENST00000376583.7:c.1920_1931delinsGTAGGAGGAGTG ENSP00000365767.3:p.Tyr640Ter
ENST00000376585.5:c.1920_1931delinsGTAGGAGGAGTG ENSP00000365770.1:p.Tyr640Ter
ENST00000376590.7:c.1797_1808delinsGTAGGAGGAGTG ENSP00000365775.3:p.Tyr599Ter
ENST00000376592.5:c.1797_1808delinsGTAGGAGGAGTG ENSP00000365777.1:p.Tyr599Ter
NM_005957.4:c.1797_1808delinsGTAGGAGGAGTG , LRG_726t1:c.1797_1808delinsGTAGGAGGAGTG NP_005948.3:p.Tyr599Ter
XM_005263458.2:c.1920_1931delinsGTAGGAGGAGTG XP_005263515.1:p.Tyr640Ter
XM_005263460.3:c.1797_1808delinsGTAGGAGGAGTG XP_005263517.1:p.Tyr599Ter
XM_005263461.3:c.1797_1808delinsGTAGGAGGAGTG XP_005263518.1:p.Tyr599Ter
XM_005263462.3:c.1797_1808delinsGTAGGAGGAGTG XP_005263519.1:p.Tyr599Ter
XM_005263463.2:c.1551_1562delinsGTAGGAGGAGTG XP_005263520.1:p.Tyr517Ter
XM_011541495.1:c.1917_1928delinsGTAGGAGGAGTG XP_011539797.1:p.Tyr639Ter
XM_011541496.1:c.1876-138_1876-127delinsGTAGGAGGAGTG XP_011539798.1:n.1876-138_1876-127delinsG...
NM_001330358.1:c.1920_1931delinsGTAGGAGGAGTG NP_001317287.1:p.Tyr640Ter
XM_005263460.5:c.1797_1808delinsGTAGGAGGAGTG XP_005263517.1:p.Tyr599Ter
XM_005263462.4:c.1797_1808delinsGTAGGAGGAGTG XP_005263519.1:p.Tyr599Ter
XM_005263463.4:c.1551_1562delinsGTAGGAGGAGTG XP_005263520.1:p.Tyr517Ter
XM_011541495.3:c.1917_1928delinsGTAGGAGGAGTG XP_011539797.1:p.Tyr639Ter
XM_011541496.3:c.1876-138_1876-127delinsGTAGGAGGAGTG XP_011539798.1:n.1876-138_1876-127delinsG...
XM_017001328.2:c.1876-106_1876-95delinsGTAGGAGGAGTG XP_016856817.1:n.1876-106_1876-95delinsGT...
XM_024447198.1:c.1551_1562delinsGTAGGAGGAGTG XP_024302966.1:p.Tyr517Ter
XR_002956640.1:n.2854-138_2854-127delinsGTAGGAGGAGTG
NM_005957.5:c.1797_1808delinsGTAGGAGGAGTG MANE Select NP_005948.3:p.Tyr599Ter
NM_001330358.2:c.1920_1931delinsGTAGGAGGAGTG NP_001317287.1:p.Tyr640Ter