Canonical Allele Identifier: CA1077963460

Gene: DHFR

Linked Data

• dbSNP Id: rs1747955718
• gnomAD v3: 5-80628989-TTA-T
• gnomAD v4: 5-80628989-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80628992_80628993del , CM000667.2:g.80628992_80628993del	GRCh38
NC_000005.9:g.79924811_79924812del , CM000667.1:g.79924811_79924812del	GRCh37
NC_000005.8:g.79960567_79960568del	NCBI36
NG_023304.1:g.30991_30992del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439211.7:c.*96_*97del MANE Select	ENSP00000396308.2:n.*96_*97del
ENST00000439211.6:c.*96_*97del	ENSP00000396308.2:n.*96_*97del
ENST00000504396.1:c.*96_*97del	ENSP00000421334.1:n.*96_*97del
ENST00000505337.5:c.*48+48_*48+49del	ENSP00000426474.1:n.*48+48_*48+49del
ENST00000511032.5:c.*154_*155del	ENSP00000422732.1:n.*154_*155del
ENST00000513048.5:n.541_542del
NM_000791.3:c.*96_*97del	NP_000782.1:n.*96_*97del
NM_001290354.1:c.*96_*97del	NP_001277283.1:n.*96_*97del
NM_001290357.1:c.*154_*155del	NP_001277286.1:n.*154_*155del
NR_110936.1:n.975_976del
NM_000791.4:c.*96_*97del MANE Select	NP_000782.1:n.*96_*97del
NM_001290354.2:c.*96_*97del	NP_001277283.1:n.*96_*97del
NM_001290357.2:c.*154_*155del	NP_001277286.1:n.*154_*155del
NR_110936.2:n.977_978del