Canonical Allele Identifier: CA2341080493
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791806_50791807delinsAG , CM000681.2:g.50791806_50791807delinsAG GRCh38
NC_000019.9:g.51295063_51295064delinsAG , CM000681.1:g.51295063_51295064delinsAG GRCh37
NC_000019.8:g.55986875_55986876delinsAG NCBI36
NG_052652.1:g.6392_6393delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+4_450+5delinsAG (ACP4) MANE Select ENSP00000270593.1:n.450+4_450+5delinsAG
ENST00000636757.1:c.-60+598_-60+599delinsCT (SMIM47) ENSP00000489695.1:n.-60+598_-60+599delinsCT
ENST00000270593.1:c.450+4_450+5delinsAG (ACP4) ENSP00000270593.1:n.450+4_450+5delinsAG
NM_033068.2:c.450+4_450+5delinsAG (ACP4) NP_149059.1:n.450+4_450+5delinsAG
XR_936026.1:n.424+598_424+599delinsCT
XR_936026.2:n.434+598_434+599delinsCT
NM_033068.3:c.450+4_450+5delinsAG (ACP4) MANE Select NP_149059.1:n.450+4_450+5delinsAG
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