Canonical Allele Identifier: CA2142661129

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64411196_64411204delinsGGTCCTATC , CM000676.2:g.64411196_64411204delinsGGTCCTATC	GRCh38
NC_000014.8:g.64877914_64877922delinsGGTCCTATC , CM000676.1:g.64877914_64877922delinsGGTCCTATC	GRCh37
NC_000014.7:g.63947667_63947675delinsGGTCCTATC	NCBI36
NG_012450.1:g.28156_28164delinsGGTCCTATC
NG_012450.2:g.28156_28164delinsGGTCCTATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.335+47_335+55delinsGGTCCTATC
ENST00000557539.2:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000476468.2:n.-58+47_-58+55delinsGGTCCTATC
ENST00000697166.1:n.335+47_335+55delinsGGTCCTATC
ENST00000697167.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000513155.1:n.186+47_186+55delinsGGTCCTATC
ENST00000697168.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000513156.1:n.186+47_186+55delinsGGTCCTATC
ENST00000697169.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000513157.1:n.186+47_186+55delinsGGTCCTATC
ENST00000697170.1:n.335+47_335+55delinsGGTCCTATC
ENST00000697171.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000513158.1:n.186+47_186+55delinsGGTCCTATC
ENST00000697173.1:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000513159.1:n.-58+47_-58+55delinsGGTCCTATC
ENST00000697174.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000513160.1:n.186+47_186+55delinsGGTCCTATC
ENST00000697175.1:c.-194+47_-194+55delinsGGTCCTATC	ENSP00000513161.1:n.-194+47_-194+55delinsGGTCCTATC
ENST00000697176.1:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000513162.1:n.-58+47_-58+55delinsGGTCCTATC
ENST00000545908.6:c.186+47_186+55delinsGGTCCTATC	ENSP00000438588.2:n.186+47_186+55delinsGGTCCTATC
ENST00000554768.6:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000477501.2:n.-58+47_-58+55delinsGGTCCTATC
ENST00000555709.7:c.186+47_186+55delinsGGTCCTATC	ENSP00000450560.3:n.186+47_186+55delinsGGTCCTATC
ENST00000557370.3:c.186+47_186+55delinsGGTCCTATC	ENSP00000477199.2:n.186+47_186+55delinsGGTCCTATC
ENST00000650853.1:n.261+47_261+55delinsGGTCCTATC
ENST00000651537.1:c.186+47_186+55delinsGGTCCTATC	ENSP00000498511.1:n.186+47_186+55delinsGGTCCTATC
ENST00000652179.1:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000498649.1:n.-58+47_-58+55delinsGGTCCTATC
ENST00000652337.1:c.186+47_186+55delinsGGTCCTATC MANE Select	ENSP00000498336.1:n.186+47_186+55delinsGGTCCTATC
ENST00000216605.12:c.186+47_186+55delinsGGTCCTATC	ENSP00000216605.8:n.186+47_186+55delinsGGTCCTATC
ENST00000545908.5:c.354+47_354+55delinsGGTCCTATC	ENSP00000438588.1:n.354+47_354+55delinsGGTCCTATC
ENST00000554739.5:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000477359.1:n.-58+47_-58+55delinsGGTCCTATC
ENST00000554768.5:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000477501.1:n.-58+47_-58+55delinsGGTCCTATC
ENST00000555252.5:n.244-1276_244-1268delinsGGTCCTATC
ENST00000555709.6:c.354+47_354+55delinsGGTCCTATC	ENSP00000450560.2:n.354+47_354+55delinsGGTCCTATC
ENST00000557539.1:c.-58+47_-58+55delinsGGTCCTATC	ENSP00000476468.1:n.-58+47_-58+55delinsGGTCCTATC
NM_005956.3:c.186+47_186+55delinsGGTCCTATC	NP_005947.3:n.186+47_186+55delinsGGTCCTATC
NM_001364837.1:c.186+47_186+55delinsGGTCCTATC	NP_001351766.1:n.186+47_186+55delinsGGTCCTATC
NM_005956.4:c.186+47_186+55delinsGGTCCTATC MANE Select	NP_005947.3:n.186+47_186+55delinsGGTCCTATC