Canonical Allele Identifier: CA1969387523
Gene: RAPSN HGNC NCBI

Linked Data

dbSNP Id: rs2076363048

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47441576_47441584dup , CM000673.2:g.47441576_47441584dup GRCh38
NC_000011.9:g.47463128_47463136dup , CM000673.1:g.47463128_47463136dup GRCh37
NC_000011.8:g.47419704_47419712dup NCBI36
NG_008312.1:g.12600_12608dup

Transcript Alleles

HGVS Amino-acid change
ENST00000298854.7:c.912+32_912+40dup MANE Select ENSP00000298854.2:n.912+32_912+40dup
ENST00000298854.6:c.912+32_912+40dup ENSP00000298854.2:n.912+32_912+40dup
ENST00000352508.7:c.789+244_789+252dup ENSP00000298853.3:n.789+244_789+252dup
ENST00000524487.5:c.753+32_753+40dup ENSP00000435551.2:n.753+32_753+40dup
ENST00000528356.1:n.121+32_121+40dup
ENST00000529341.1:c.789+244_789+252dup ENSP00000431732.1:n.789+244_789+252dup
NM_005055.4:c.912+32_912+40dup NP_005046.2:n.912+32_912+40dup
NM_032645.4:c.789+244_789+252dup NP_116034.2:n.789+244_789+252dup
XM_005253042.2:c.912+32_912+40dup XP_005253099.1:n.912+32_912+40dup
XM_005253043.2:c.789+244_789+252dup XP_005253100.1:n.789+244_789+252dup
XM_011520252.1:c.912+32_912+40dup XP_011518554.1:n.912+32_912+40dup
XM_011520253.1:c.912+32_912+40dup XP_011518555.1:n.912+32_912+40dup
XM_005253042.3:c.912+32_912+40dup XP_005253099.1:n.912+32_912+40dup
XM_005253043.3:c.789+244_789+252dup XP_005253100.1:n.789+244_789+252dup
NM_005055.5:c.912+32_912+40dup MANE Select NP_005046.2:n.912+32_912+40dup
NM_032645.5:c.789+244_789+252dup NP_116034.2:n.789+244_789+252dup