Canonical Allele Identifier: CA1139661959

Gene: RAPSN

Linked Data

• ClinVar Variation Id: 948140
• ClinVar RCV Id: RCV001219339
• dbSNP Id: rs2076367688

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441880_47441923dup , CM000673.2:g.47441880_47441923dup	GRCh38
NC_000011.9:g.47463432_47463475dup , CM000673.1:g.47463432_47463475dup	GRCh37
NC_000011.8:g.47420008_47420051dup	NCBI36
NG_008312.1:g.12256_12299dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.691-2_732dup
ENST00000298854.6:c.691-2_732dup
ENST00000352508.7:c.691-2_732dup
ENST00000524487.5:c.532-2_573dup
ENST00000529341.1:c.691-2_732dup
NM_005055.4:c.691-2_732dup
NM_032645.4:c.691-2_732dup
XM_005253042.2:c.691-2_732dup
XM_005253043.2:c.691-2_732dup
XM_011520252.1:c.691-2_732dup
XM_011520253.1:c.691-2_732dup
XM_005253042.3:c.691-2_732dup
XM_005253043.3:c.691-2_732dup
NM_005055.5:c.691-2_732dup
NM_032645.5:c.691-2_732dup