Canonical Allele Identifier: CA2613412582

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441779-G-GGGGCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441779_47441780insGGGCCCCCCCCCCCC , CM000673.2:g.47441779_47441780insGGGCCCCCCCCCCCC	GRCh38
NC_000011.9:g.47463331_47463332insGGGCCCCCCCCCCCC , CM000673.1:g.47463331_47463332insGGGCCCCCCCCCCCC	GRCh37
NC_000011.8:g.47419907_47419908insGGGCCCCCCCCCCCC	NCBI36
NG_008312.1:g.12399_12400insGGGGGGGGGGGGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.789+43_789+44insGGGGGGGGGGGGCCC MANE Select	ENSP00000298854.2:n.789+43_789+44insGGGGGGGGGGGGCCC
ENST00000298854.6:c.789+43_789+44insGGGGGGGGGGGGCCC	ENSP00000298854.2:n.789+43_789+44insGGGGGGGGGGGGCCC
ENST00000352508.7:c.789+43_789+44insGGGGGGGGGGGGCCC	ENSP00000298853.3:n.789+43_789+44insGGGGGGGGGGGGCCC
ENST00000524487.5:c.630+43_630+44insGGGGGGGGGGGGCCC	ENSP00000435551.2:n.630+43_630+44insGGGGGGGGGGGGCCC
ENST00000529341.1:c.789+43_789+44insGGGGGGGGGGGGCCC	ENSP00000431732.1:n.789+43_789+44insGGGGGGGGGGGGCCC
NM_005055.4:c.789+43_789+44insGGGGGGGGGGGGCCC	NP_005046.2:n.789+43_789+44insGGGGGGGGGGGGCCC
NM_032645.4:c.789+43_789+44insGGGGGGGGGGGGCCC	NP_116034.2:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_005253042.2:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_005253099.1:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_005253043.2:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_005253100.1:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_011520252.1:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_011518554.1:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_011520253.1:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_011518555.1:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_005253042.3:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_005253099.1:n.789+43_789+44insGGGGGGGGGGGGCCC
XM_005253043.3:c.789+43_789+44insGGGGGGGGGGGGCCC	XP_005253100.1:n.789+43_789+44insGGGGGGGGGGGGCCC
NM_005055.5:c.789+43_789+44insGGGGGGGGGGGGCCC MANE Select	NP_005046.2:n.789+43_789+44insGGGGGGGGGGGGCCC
NM_032645.5:c.789+43_789+44insGGGGGGGGGGGGCCC	NP_116034.2:n.789+43_789+44insGGGGGGGGGGGGCCC