Canonical Allele Identifier: CA2574817152

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 2678231
• ClinVar RCV Id: RCV003463453

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441874_47441875insT , CM000673.2:g.47441874_47441875insT	GRCh38
NC_000011.9:g.47463426_47463427insT , CM000673.1:g.47463426_47463427insT	GRCh37
NC_000011.8:g.47420002_47420003insT	NCBI36
NG_008312.1:g.12304_12305insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.737_738insA MANE Select	ENSP00000298854.2:p.Leu247AlafsTer8
ENST00000298854.6:c.737_738insA	ENSP00000298854.2:p.Leu247AlafsTer8
ENST00000352508.7:c.737_738insA	ENSP00000298853.3:p.Leu247AlafsTer8
ENST00000524487.5:c.578_579insA	ENSP00000435551.2:p.Leu194AlafsTer8
ENST00000529341.1:c.737_738insA	ENSP00000431732.1:p.Leu247AlafsTer8
NM_005055.4:c.737_738insA	NP_005046.2:p.Leu247AlafsTer8
NM_032645.4:c.737_738insA	NP_116034.2:p.Leu247AlafsTer8
XM_005253042.2:c.737_738insA	XP_005253099.1:p.Leu247AlafsTer8
XM_005253043.2:c.737_738insA	XP_005253100.1:p.Leu247AlafsTer8
XM_011520252.1:c.737_738insA	XP_011518554.1:p.Leu247AlafsTer8
XM_011520253.1:c.737_738insA	XP_011518555.1:p.Leu247AlafsTer8
XM_005253042.3:c.737_738insA	XP_005253099.1:p.Leu247AlafsTer8
XM_005253043.3:c.737_738insA	XP_005253100.1:p.Leu247AlafsTer8
NM_005055.5:c.737_738insA MANE Select	NP_005046.2:p.Leu247AlafsTer8
NM_032645.5:c.737_738insA	NP_116034.2:p.Leu247AlafsTer8