Canonical Allele Identifier: CA2639718044
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763446-T-TGA
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763447_74763448insAG , CM000679.2:g.74763447_74763448insAG GRCh38
NC_000017.10:g.72759586_72759587insAG , CM000679.1:g.72759586_72759587insAG GRCh37
NC_000017.9:g.70271181_70271182insAG NCBI36
NG_013022.1:g.19824_19825insAG

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.684_685insAG MANE Select ENSP00000262613.5:p.Leu229SerfsTer17
ENST00000262613.9:c.684_685insAG ENSP00000262613.5:p.Leu229SerfsTer17
ENST00000413388.2:c.216_217insAG ENSP00000464982.1:p.Leu73SerfsTer17
ENST00000578958.1:n.418_419insAG
ENST00000581356.1:c.20_21insAG
ENST00000583369.5:c.442-4700_442-4699insAG ENSP00000464321.1:n.442-4700_442-4699insA...
NM_004252.4:c.684_685insAG NP_004243.1:p.Leu229SerfsTer17
XR_002958087.1:n.903_904insAG
NM_004252.5:c.684_685insAG MANE Select NP_004243.1:p.Leu229SerfsTer17
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Search 100 bp 3'