Canonical Allele Identifier: CA212885
Gene: RAPSN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47442795_47442799dup , CM000673.2:g.47442795_47442799dup GRCh38
NC_000011.9:g.47464347_47464351dup , CM000673.1:g.47464347_47464351dup GRCh37
NC_000011.8:g.47420923_47420927dup NCBI36
NG_008312.1:g.11382_11386dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.549_553dup MANE Select ENSP00000298854.2:p.Phe185CysfsTer20
ENST00000298854.6:c.549_553dup ENSP00000298854.2:p.Phe185CysfsTer20
ENST00000352508.7:c.549_553dup ENSP00000298853.3:p.Phe185CysfsTer20
ENST00000524487.5:c.532-876_532-872dup ENSP00000435551.2:n.532-876_532-872dup
ENST00000529341.1:c.549_553dup ENSP00000431732.1:p.Phe185CysfsTer20
NM_005055.4:c.549_553dup NP_005046.2:p.Phe185CysfsTer20
NM_032645.4:c.549_553dup NP_116034.2:p.Phe185CysfsTer20
XM_005253042.2:c.549_553dup XP_005253099.1:p.Phe185CysfsTer20
XM_005253043.2:c.549_553dup XP_005253100.1:p.Phe185CysfsTer20
XM_011520252.1:c.549_553dup XP_011518554.1:p.Phe185CysfsTer20
XM_011520253.1:c.549_553dup XP_011518555.1:p.Phe185CysfsTer20
XM_005253042.3:c.549_553dup XP_005253099.1:p.Phe185CysfsTer20
XM_005253043.3:c.549_553dup XP_005253100.1:p.Phe185CysfsTer20
NM_005055.5:c.549_553dup MANE Select NP_005046.2:p.Phe185CysfsTer20
NM_032645.5:c.549_553dup NP_116034.2:p.Phe185CysfsTer20
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