Canonical Allele Identifier: CA883239646
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1344158775
gnomAD v3: 19-50791933-GC-G
gnomAD v4: 19-50791933-GC-G
MyVariant Identifiers: chr19:g.51295191del (hg19) chr19:g.50791934del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791937del , CM000681.2:g.50791937del GRCh38
NC_000019.9:g.51295194del , CM000681.1:g.51295194del GRCh37
NC_000019.8:g.55987006del NCBI36
NG_052652.1:g.6523del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.451-136del (ACP4) MANE Select ENSP00000270593.1:n.451-136del
ENST00000636757.1:c.-60+471del (SMIM47) ENSP00000489695.1:n.-60+471del
ENST00000270593.1:c.451-136del (ACP4) ENSP00000270593.1:n.451-136del
NM_033068.2:c.451-136del (ACP4) NP_149059.1:n.451-136del
XR_936026.1:n.424+471del
XR_936026.2:n.434+471del
NM_033068.3:c.451-136del (ACP4) MANE Select NP_149059.1:n.451-136del
Search 100 bp 5'
Search 100 bp 3'