Canonical Allele Identifier: CA1139661954
Community Standard Title: NM_005055.5(RAPSN):c.456_457delinsCA (p.Ala153Thr)
Gene: RAPSN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47447886_47447887delinsTG , CM000673.2:g.47447886_47447887delinsTG GRCh38
NC_000011.9:g.47469438_47469439delinsTG , CM000673.1:g.47469438_47469439delinsTG GRCh37
NC_000011.8:g.47426014_47426015delinsTG NCBI36
NG_008312.1:g.6292_6293delinsCA

Transcript Alleles

HGVS Amino-acid Change
NM_005055.5:c.456_457delinsCA MANE Select NP_005046.2:p.Ala153Thr
ENST00000298854.7:c.456_457delinsCA MANE Select ENSP00000298854.2:p.Ala153Thr
NM_005055.4:c.456_457delinsCA NP_005046.2:p.Ala153Thr
NM_032645.4:c.456_457delinsCA NP_116034.2:p.Ala153Thr
NM_032645.5:c.456_457delinsCA NP_116034.2:p.Ala153Thr
ENST00000298854.6:c.456_457delinsCA ENSP00000298854.2:p.Ala153Thr
ENST00000352508.7:c.456_457delinsCA ENSP00000298853.3:p.Ala153Thr
ENST00000524487.5:c.456_457delinsCA ENSP00000435551.2:p.Ala153Thr
ENST00000529341.1:c.456_457delinsCA ENSP00000431732.1:p.Ala153Thr
XM_005253042.2:c.456_457delinsCA XP_005253099.1:p.Ala153Thr
XM_005253042.3:c.456_457delinsCA XP_005253099.1:p.Ala153Thr
XM_005253043.2:c.456_457delinsCA XP_005253100.1:p.Ala153Thr
XM_005253043.3:c.456_457delinsCA XP_005253100.1:p.Ala153Thr
XM_011520252.1:c.456_457delinsCA XP_011518554.1:p.Ala153Thr
XM_011520253.1:c.456_457delinsCA XP_011518555.1:p.Ala153Thr