Canonical Allele Identifier: CA2639717939

Gene: NHERF1

Linked Data

• gnomAD v4: 17-74763357-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763358del , CM000679.2:g.74763358del	GRCh38
NC_000017.10:g.72759497del , CM000679.1:g.72759497del	GRCh37
NC_000017.9:g.70271092del	NCBI36
NG_013022.1:g.19735del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.604-9del MANE Select	ENSP00000262613.5:n.604-9del
ENST00000262613.9:c.604-9del	ENSP00000262613.5:n.604-9del
ENST00000413388.2:c.136-9del	ENSP00000464982.1:n.136-9del
ENST00000578958.1:n.329del
ENST00000583369.5:c.442-4789del	ENSP00000464321.1:n.442-4789del
NM_004252.4:c.604-9del	NP_004243.1:n.604-9del
XR_002958087.1:n.823-9del
NM_004252.5:c.604-9del MANE Select	NP_004243.1:n.604-9del