Canonical Allele Identifier: CA915948198
Community Standard Title: NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47447886_47447887delinsAG , CM000673.2:g.47447886_47447887delinsAG GRCh38
NC_000011.9:g.47469438_47469439delinsAG , CM000673.1:g.47469438_47469439delinsAG GRCh37
NC_000011.8:g.47426014_47426015delinsAG NCBI36
NG_008312.1:g.6292_6293delinsCT

Transcript Alleles

HGVS Amino-acid Change
NM_005055.5:c.456_457delinsCT MANE Select NP_005046.2:p.Ala153Ser
ENST00000298854.7:c.456_457delinsCT MANE Select ENSP00000298854.2:p.Ala153Ser
NM_005055.4:c.456_457delinsCT NP_005046.2:p.Ala153Ser
NM_032645.4:c.456_457delinsCT NP_116034.2:p.Ala153Ser
NM_032645.5:c.456_457delinsCT NP_116034.2:p.Ala153Ser
ENST00000298854.6:c.456_457delinsCT ENSP00000298854.2:p.Ala153Ser
ENST00000352508.7:c.456_457delinsCT ENSP00000298853.3:p.Ala153Ser
ENST00000524487.5:c.456_457delinsCT ENSP00000435551.2:p.Ala153Ser
ENST00000529341.1:c.456_457delinsCT ENSP00000431732.1:p.Ala153Ser
XM_005253042.2:c.456_457delinsCT XP_005253099.1:p.Ala153Ser
XM_005253042.3:c.456_457delinsCT XP_005253099.1:p.Ala153Ser
XM_005253043.2:c.456_457delinsCT XP_005253100.1:p.Ala153Ser
XM_005253043.3:c.456_457delinsCT XP_005253100.1:p.Ala153Ser
XM_011520252.1:c.456_457delinsCT XP_011518554.1:p.Ala153Ser
XM_011520253.1:c.456_457delinsCT XP_011518555.1:p.Ala153Ser