Canonical Allele Identifier: CA2639718052
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763447-G-GAGCTGGGGGATGAAGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763447_74763448insAGCTGGGGGATGAAGC , CM000679.2:g.74763447_74763448insAGCTGGGGGATGAAGC GRCh38
NC_000017.10:g.72759586_72759587insAGCTGGGGGATGAAGC , CM000679.1:g.72759586_72759587insAGCTGGGGGATGAAGC GRCh37
NC_000017.9:g.70271181_70271182insAGCTGGGGGATGAAGC NCBI36
NG_013022.1:g.19824_19825insAGCTGGGGGATGAAGC

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.684_685insAGCTGGGGGATGAAGC MANE Select ENSP00000262613.5:p.Leu229SerfsTer13
ENST00000262613.9:c.684_685insAGCTGGGGGATGAAGC ENSP00000262613.5:p.Leu229SerfsTer13
ENST00000413388.2:c.216_217insAGCTGGGGGATGAAGC ENSP00000464982.1:p.Leu73SerfsTer13
ENST00000578958.1:n.418_419insAGCTGGGGGATGAAGC
ENST00000581356.1:c.20_21insAGCTGGGGGATGAAGC
ENST00000583369.5:c.442-4700_442-4699insAGCTGGGGGATGAAGC ENSP00000464321.1:n.442-4700_442-4699insA...
NM_004252.4:c.684_685insAGCTGGGGGATGAAGC NP_004243.1:p.Leu229SerfsTer13
XR_002958087.1:n.903_904insAGCTGGGGGATGAAGC
NM_004252.5:c.684_685insAGCTGGGGGATGAAGC MANE Select NP_004243.1:p.Leu229SerfsTer13
Search 100 bp 5'
Search 100 bp 3'