Canonical Allele Identifier: CA2341080490
Gene: ACP4 HGNC NCBI
SMIM47 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.50791805_50791806delinsCA , CM000681.2:g.50791805_50791806delinsCA GRCh38
NC_000019.9:g.51295062_51295063delinsCA , CM000681.1:g.51295062_51295063delinsCA GRCh37
NC_000019.8:g.55986874_55986875delinsCA NCBI36
NG_052652.1:g.6391_6392delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000270593.2:c.450+3_450+4delinsCA (ACP4) MANE Select ENSP00000270593.1:n.450+3_450+4delinsCA
ENST00000636757.1:c.-60+599_-60+600delinsTG (SMIM47) ENSP00000489695.1:n.-60+599_-60+600delinsTG
ENST00000270593.1:c.450+3_450+4delinsCA (ACP4) ENSP00000270593.1:n.450+3_450+4delinsCA
NM_033068.2:c.450+3_450+4delinsCA (ACP4) NP_149059.1:n.450+3_450+4delinsCA
XR_936026.1:n.424+599_424+600delinsTG
XR_936026.2:n.434+599_434+600delinsTG
NM_033068.3:c.450+3_450+4delinsCA (ACP4) MANE Select NP_149059.1:n.450+3_450+4delinsCA
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