Canonical Allele Identifier: CA2830782724

Gene: RAPSN

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441860_47441862del , CM000673.2:g.47441860_47441862del	GRCh38
NC_000011.9:g.47463412_47463414del , CM000673.1:g.47463412_47463414del	GRCh37
NC_000011.8:g.47419988_47419990del	NCBI36
NG_008312.1:g.12319_12321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.752_754del MANE Select	ENSP00000298854.2:p.Cys251del
ENST00000298854.6:c.752_754del	ENSP00000298854.2:p.Cys251del
ENST00000352508.7:c.752_754del	ENSP00000298853.3:p.Cys251del
ENST00000524487.5:c.593_595del	ENSP00000435551.2:p.Cys198del
ENST00000529341.1:c.752_754del	ENSP00000431732.1:p.Cys251del
NM_005055.4:c.752_754del	NP_005046.2:p.Cys251del
NM_032645.4:c.752_754del	NP_116034.2:p.Cys251del
XM_005253042.2:c.752_754del	XP_005253099.1:p.Cys251del
XM_005253043.2:c.752_754del	XP_005253100.1:p.Cys251del
XM_011520252.1:c.752_754del	XP_011518554.1:p.Cys251del
XM_011520253.1:c.752_754del	XP_011518555.1:p.Cys251del
XM_005253042.3:c.752_754del	XP_005253099.1:p.Cys251del
XM_005253043.3:c.752_754del	XP_005253100.1:p.Cys251del
NM_005055.5:c.752_754del MANE Select	NP_005046.2:p.Cys251del
NM_032645.5:c.752_754del	NP_116034.2:p.Cys251del