Canonical Allele Identifier: CA2639718122
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763489-CAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763492_74763493del , CM000679.2:g.74763492_74763493del GRCh38
NC_000017.10:g.72759631_72759632del , CM000679.1:g.72759631_72759632del GRCh37
NC_000017.9:g.70271226_70271227del NCBI36
NG_013022.1:g.19869_19870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.729_730del MANE Select ENSP00000262613.5:p.Arg243SerfsTer28
ENST00000262613.9:c.729_730del ENSP00000262613.5:p.Arg243SerfsTer28
ENST00000413388.2:c.261_262del ENSP00000464982.1:p.Arg87SerfsTer28
ENST00000578958.1:n.463_464del
ENST00000581356.1:c.65_66del
ENST00000583369.5:c.442-4655_442-4654del ENSP00000464321.1:n.442-4655_442-4654del
NM_004252.4:c.729_730del NP_004243.1:p.Arg243SerfsTer28
XR_002958087.1:n.948_949del
NM_004252.5:c.729_730del MANE Select NP_004243.1:p.Arg243SerfsTer28
Search 100 bp 5'
Search 100 bp 3'