Canonical Allele Identifier: CA2639718172

Gene: NHERF1

Linked Data

• gnomAD v4: 17-74763531-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763535del , CM000679.2:g.74763535del	GRCh38
NC_000017.10:g.72759674del , CM000679.1:g.72759674del	GRCh37
NC_000017.9:g.70271269del	NCBI36
NG_013022.1:g.19912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.757+15del MANE Select	ENSP00000262613.5:n.757+15del
ENST00000262613.9:c.757+15del	ENSP00000262613.5:n.757+15del
ENST00000413388.2:c.289+15del	ENSP00000464982.1:n.289+15del
ENST00000578958.1:n.491+15del
ENST00000581356.1:c.93+15del
ENST00000583369.5:c.442-4612del	ENSP00000464321.1:n.442-4612del
NM_004252.4:c.757+15del	NP_004243.1:n.757+15del
XR_002958087.1:n.991del
NM_004252.5:c.757+15del MANE Select	NP_004243.1:n.757+15del