Canonical Allele Identifier: CA2613411251

Gene: RAPSN

Linked Data

• gnomAD v4: 11-47441615-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47441617del , CM000673.2:g.47441617del	GRCh38
NC_000011.9:g.47463169del , CM000673.1:g.47463169del	GRCh37
NC_000011.8:g.47419745del	NCBI36
NG_008312.1:g.12563del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298854.7:c.907del MANE Select	ENSP00000298854.2:p.Asp303ThrfsTer21
ENST00000298854.6:c.907del	ENSP00000298854.2:p.Asp303ThrfsTer21
ENST00000352508.7:c.789+207del	ENSP00000298853.3:n.789+207del
ENST00000524487.5:c.748del	ENSP00000435551.2:p.Asp250ThrfsTer21
ENST00000528356.1:n.116del
ENST00000529341.1:c.789+207del	ENSP00000431732.1:n.789+207del
NM_005055.4:c.907del	NP_005046.2:p.Asp303ThrfsTer21
NM_032645.4:c.789+207del	NP_116034.2:n.789+207del
XM_005253042.2:c.907del	XP_005253099.1:p.Asp303ThrfsTer3
XM_005253043.2:c.789+207del	XP_005253100.1:n.789+207del
XM_011520252.1:c.907del	XP_011518554.1:p.Asp303ThrfsTer12
XM_011520253.1:c.907del	XP_011518555.1:p.Asp303ThrfsTer29
XM_005253042.3:c.907del	XP_005253099.1:p.Asp303ThrfsTer3
XM_005253043.3:c.789+207del	XP_005253100.1:n.789+207del
NM_005055.5:c.907del MANE Select	NP_005046.2:p.Asp303ThrfsTer21
NM_032645.5:c.789+207del	NP_116034.2:n.789+207del