Canonical Allele Identifier: CA2580088347

Gene: MTHFD1 ZBTB25

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64453825del , CM000676.2:g.64453825del	GRCh38
NC_000014.8:g.64920543del , CM000676.1:g.64920543del	GRCh37
NC_000014.7:g.63990296del	NCBI36
NG_012450.1:g.70785del
NG_012450.2:g.70785del

Transcript Alleles

HGVS	Amino-acid Change
NM_005956.4:c.2529del (MTHFD1) MANE Select	NP_005947.3:p.Glu844LysfsTer?
ENST00000652337.1:c.2529del (MTHFD1) MANE Select	ENSP00000498336.1:p.Glu844LysfsTer?
NM_001304508.1:c.174-4185del (ZBTB25)	NP_001291437.1:n.174-4185del
NM_001364837.1:c.2529del (MTHFD1)	NP_001351766.1:p.Glu844LysfsTer?
NM_005956.3:c.2529del (MTHFD1)	NP_005947.3:p.Glu844LysfsTer?
ENST00000216605.12:c.2529del (MTHFD1)	ENSP00000216605.8:p.Glu844LysfsTer?
ENST00000545908.5:c.2697del (MTHFD1)	ENSP00000438588.1:p.Glu900LysfsTer?
ENST00000545908.6:c.2529del (MTHFD1)	ENSP00000438588.2:p.Glu844LysfsTer?
ENST00000554768.6:c.2286del (MTHFD1)	ENSP00000477501.2:p.Glu763LysfsTer?
ENST00000555220.5:c.174-4185del (ZBTB25)	ENSP00000450718.1:n.174-4185del
ENST00000555424.1:c.257-4185del (ZBTB25)	ENSP00000451046.1:n.257-4185del
ENST00000556284.1:n.194del (MTHFD1)
ENST00000557370.2:c.84del (MTHFD1)	ENSP00000477199.1:p.Glu29LysfsTer?
ENST00000557370.3:c.2529del (MTHFD1)	ENSP00000477199.2:p.Glu844LysfsTer?
ENST00000557539.2:c.2286del (MTHFD1)	ENSP00000476468.2:p.Glu763LysfsTer?
ENST00000650853.1:n.3645del (MTHFD1)
ENST00000651537.1:c.2529del (MTHFD1)	ENSP00000498511.1:p.Glu844LysfsTer?
ENST00000651891.1:n.516del (MTHFD1)
ENST00000652179.1:c.2286del (MTHFD1)	ENSP00000498649.1:p.Glu763LysfsTer?
ENST00000652509.1:c.1691-898del (MTHFD1)
ENST00000697166.1:n.2678del (MTHFD1)
ENST00000697167.1:c.*1213del (MTHFD1)	ENSP00000513155.1:n.*1213del
ENST00000697168.1:c.2529del (MTHFD1)	ENSP00000513156.1:p.Glu844LysfsTer13
ENST00000697169.1:c.*530del (MTHFD1)	ENSP00000513157.1:n.*530del
ENST00000697170.1:n.3693del (MTHFD1)
ENST00000697171.1:c.2529del (MTHFD1)	ENSP00000513158.1:p.Glu844LysfsTer13
ENST00000697173.1:c.2286del (MTHFD1)	ENSP00000513159.1:p.Glu763LysfsTer?
ENST00000697174.1:c.2280del (MTHFD1)	ENSP00000513160.1:p.Glu761LysfsTer?
ENST00000697175.1:c.*1325del (MTHFD1)	ENSP00000513161.1:n.*1325del
ENST00000697176.1:c.2108del (MTHFD1)	ENSP00000513162.1:p.Pro703ArgfsTer7
ENST00000697177.1:n.984del (MTHFD1)
XM_006720250.2:c.1493-4185del (ZBTB25)	XP_006720313.1:n.1493-4185del
XM_006720250.4:c.1493-4185del (ZBTB25)	XP_006720313.1:n.1493-4185del