Canonical Allele Identifier: CA1969385786
Gene: RAPSN HGNC NCBI

Linked Data

dbSNP Id: rs2076324962
gnomAD v4: 11-47437849-CAGGCCCCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47437855_47437862del , CM000673.2:g.47437855_47437862del GRCh38
NC_000011.9:g.47459406_47459413del , CM000673.1:g.47459406_47459413del GRCh37
NC_000011.8:g.47415982_47415989del NCBI36
NG_008312.1:g.16323_16330del

Transcript Alleles

HGVS Amino-acid Change
ENST00000298854.7:c.*118_*125del MANE Select ENSP00000298854.2:n.*118_*125del
ENST00000298854.6:c.*118_*125del ENSP00000298854.2:n.*118_*125del
ENST00000352508.7:c.*118_*125del ENSP00000298853.3:n.*118_*125del
ENST00000524487.5:c.*118_*125del ENSP00000435551.2:n.*118_*125del
ENST00000528356.1:n.312_319del
NM_005055.4:c.*118_*125del NP_005046.2:n.*118_*125del
NM_032645.4:c.*118_*125del NP_116034.2:n.*118_*125del
XM_011520252.1:c.1442_1449del XP_011518554.1:p.Leu481CysfsTer24
NM_005055.5:c.*118_*125del MANE Select NP_005046.2:n.*118_*125del
NM_032645.5:c.*118_*125del NP_116034.2:n.*118_*125del
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