Canonical Allele Identifier: CA633899229
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI

Linked Data

dbSNP Id: rs1295071058
gnomAD v2: 19-51295041-GC-G
MyVariant Identifiers: chr19:g.51295042del (hg19) chr19:g.50791785del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791787del , CM000681.2:g.50791787del GRCh38
NC_000019.9:g.51295044del , CM000681.1:g.51295044del GRCh37
NC_000019.8:g.55986856del NCBI36
NG_052652.1:g.6373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.435del (ACP4) MANE Select ENSP00000270593.1:p.Val146TrpfsTer7
ENST00000636757.1:c.-60+620del (SMIM47) ENSP00000489695.1:n.-60+620del
ENST00000270593.1:c.435del (ACP4) ENSP00000270593.1:p.Val146TrpfsTer7
NM_033068.2:c.435del (ACP4) NP_149059.1:p.Val146TrpfsTer7
XR_936026.1:n.424+620del
XR_936026.2:n.434+620del
NM_033068.3:c.435del (ACP4) MANE Select NP_149059.1:p.Val146TrpfsTer7
Search 100 bp 5'
Search 100 bp 3'