Canonical Allele Identifier: CA2625229118

Gene: MTHFD1

Linked Data

• gnomAD v4: 14-64411299-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64411301del , CM000676.2:g.64411301del	GRCh38
NC_000014.8:g.64878019del , CM000676.1:g.64878019del	GRCh37
NC_000014.7:g.63947772del	NCBI36
NG_012450.1:g.28261del
NG_012450.2:g.28261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.335+152del
ENST00000557539.2:c.-58+152del	ENSP00000476468.2:n.-58+152del
ENST00000697166.1:n.335+152del
ENST00000697167.1:c.186+152del	ENSP00000513155.1:n.186+152del
ENST00000697168.1:c.186+152del	ENSP00000513156.1:n.186+152del
ENST00000697169.1:c.186+152del	ENSP00000513157.1:n.186+152del
ENST00000697170.1:n.335+152del
ENST00000697171.1:c.186+152del	ENSP00000513158.1:n.186+152del
ENST00000697173.1:c.-58+152del	ENSP00000513159.1:n.-58+152del
ENST00000697174.1:c.186+152del	ENSP00000513160.1:n.186+152del
ENST00000697175.1:c.-193-70del	ENSP00000513161.1:n.-193-70del
ENST00000697176.1:c.-58+152del	ENSP00000513162.1:n.-58+152del
ENST00000545908.6:c.186+152del	ENSP00000438588.2:n.186+152del
ENST00000554768.6:c.-58+152del	ENSP00000477501.2:n.-58+152del
ENST00000555709.7:c.186+152del	ENSP00000450560.3:n.186+152del
ENST00000557370.3:c.186+152del	ENSP00000477199.2:n.186+152del
ENST00000650853.1:n.261+152del
ENST00000651537.1:c.186+152del	ENSP00000498511.1:n.186+152del
ENST00000652179.1:c.-58+152del	ENSP00000498649.1:n.-58+152del
ENST00000652337.1:c.186+152del MANE Select	ENSP00000498336.1:n.186+152del
ENST00000216605.12:c.186+152del	ENSP00000216605.8:n.186+152del
ENST00000545908.5:c.354+152del	ENSP00000438588.1:n.354+152del
ENST00000554739.5:c.-58+152del	ENSP00000477359.1:n.-58+152del
ENST00000554768.5:c.-58+152del	ENSP00000477501.1:n.-58+152del
ENST00000555252.5:n.244-1171del
ENST00000555709.6:c.354+152del	ENSP00000450560.2:n.354+152del
ENST00000557539.1:c.-58+152del	ENSP00000476468.1:n.-58+152del
NM_005956.3:c.186+152del	NP_005947.3:n.186+152del
NM_001364837.1:c.186+152del	NP_001351766.1:n.186+152del
NM_005956.4:c.186+152del MANE Select	NP_005947.3:n.186+152del