Canonical Allele Identifier: CA996824927
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs2089506326
gnomAD v3: 19-50791536-CAT-C
gnomAD v4: 19-50791536-CAT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791537_50791538del , CM000681.2:g.50791537_50791538del GRCh38
NC_000019.9:g.51294794_51294795del , CM000681.1:g.51294794_51294795del GRCh37
NC_000019.8:g.55986606_55986607del NCBI36
NG_052652.1:g.6123_6124del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.304-119_304-118del (ACP4) MANE Select ENSP00000270593.1:n.304-119_304-118del
ENST00000636757.1:c.-60+867_-60+868del (SMIM47) ENSP00000489695.1:n.-60+867_-60+868del
ENST00000270593.1:c.304-119_304-118del (ACP4) ENSP00000270593.1:n.304-119_304-118del
NM_033068.2:c.304-119_304-118del (ACP4) NP_149059.1:n.304-119_304-118del
XR_936026.1:n.424+867_424+868del
XR_936026.2:n.434+867_434+868del
NM_033068.3:c.304-119_304-118del (ACP4) MANE Select NP_149059.1:n.304-119_304-118del
Search 100 bp 5'
Search 100 bp 3'