Canonical Allele Identifier: CA16618214
Community Standard Title: NM_000791.4(DHFR):c.133del (p.Glu45LysfsTer7)
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80654011del , CM000667.2:g.80654011del GRCh38
NC_000005.9:g.79949830del , CM000667.1:g.79949830del GRCh37
NC_000005.8:g.79985586del NCBI36
NG_016607.1:g.4537del
NG_023304.1:g.5971del
NG_016607.2:g.4537del

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.133del MANE Select NP_000782.1:p.Glu45LysfsTer7
ENST00000439211.7:c.133del MANE Select ENSP00000396308.2:p.Glu45LysfsTer7
NM_000791.3:c.133del NP_000782.1:p.Glu45LysfsTer7
NM_001290354.1:c.-21+393del NP_001277283.1:n.-21+393del
NM_001290354.2:c.-21+393del NP_001277283.1:n.-21+393del
NM_001290357.1:c.133del NP_001277286.1:p.Glu45LysfsTer7
NM_001290357.2:c.133del NP_001277286.1:p.Glu45LysfsTer7
NR_110936.1:n.578+393del
NR_110936.2:n.580+393del
ENST00000439211.6:c.133del ENSP00000396308.2:p.Glu45LysfsTer7
ENST00000504396.1:c.-21+393del ENSP00000421334.1:n.-21+393del
ENST00000505337.5:c.133del ENSP00000426474.1:p.Glu45LysfsTer7
ENST00000508282.1:n.91del
ENST00000511032.5:c.133del ENSP00000422732.1:p.Glu45LysfsTer7
ENST00000513048.5:n.144+393del
ENST00000513314.1:n.25del