Canonical Allele Identifier: CA2275179206
Gene: NHERF1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763436_74763437delinsGA , CM000679.2:g.74763436_74763437delinsGA GRCh38
NC_000017.10:g.72759575_72759576delinsGA , CM000679.1:g.72759575_72759576delinsGA GRCh37
NC_000017.9:g.70271170_70271171delinsGA NCBI36
NG_013022.1:g.19813_19814delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.673_674delinsGA MANE Select ENSP00000262613.5:p.Glu225=
ENST00000262613.9:c.673_674delinsGA ENSP00000262613.5:p.Glu225=
ENST00000413388.2:c.205_206delinsGA ENSP00000464982.1:p.Glu69=
ENST00000578958.1:n.407_408delinsGA
ENST00000581356.1:c.9_10delinsGA
ENST00000583369.5:c.442-4711_442-4710delinsGA ENSP00000464321.1:n.442-4711_442-4710deli...
NM_004252.4:c.673_674delinsGA NP_004243.1:p.Glu225=
XR_002958087.1:n.892_893delinsGA
NM_004252.5:c.673_674delinsGA MANE Select NP_004243.1:p.Glu225=