Canonical Allele Identifier: CA2527911512

Gene: SHOC2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.111012218_111012219insAAGAGAAAG , CM000672.2:g.111012218_111012219insAAGAGAAAG	GRCh38
NC_000010.10:g.112771976_112771977insAAGAGAAAG , CM000672.1:g.112771976_112771977insAAGAGAAAG	GRCh37
NC_000010.9:g.112761966_112761967insAAGAGAAAG	NCBI36
NG_028922.1:g.97676_97677insAAGAGAAAG , LRG_753:g.97676_97677insAAGAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.*400_*401insAAGAGAAAG	ENSP00000265277.5:n.*400_*401insAAGAGAAAG
ENST00000451838.2:c.*400_*401insAAGAGAAAG	ENSP00000408275.2:n.*400_*401insAAGAGAAAG
ENST00000685059.1:c.*400_*401insAAGAGAAAG	ENSP00000510210.1:n.*400_*401insAAGAGAAAG
ENST00000685613.1:c.*1145_*1146insAAGAGAAAG	ENSP00000510564.1:n.*1145_*1146insAAGAGAAAG
ENST00000688928.1:c.*400_*401insAAGAGAAAG	ENSP00000509273.1:n.*400_*401insAAGAGAAAG
ENST00000689118.1:c.*400_*401insAAGAGAAAG	ENSP00000510554.1:n.*400_*401insAAGAGAAAG
ENST00000689300.1:c.*400_*401insAAGAGAAAG	ENSP00000510639.1:n.*400_*401insAAGAGAAAG
ENST00000689997.1:c.*400_*401insAAGAGAAAG	ENSP00000510700.1:n.*400_*401insAAGAGAAAG
ENST00000691369.1:c.*400_*401insAAGAGAAAG	ENSP00000509754.1:n.*400_*401insAAGAGAAAG
ENST00000691441.1:c.*400_*401insAAGAGAAAG	ENSP00000509686.1:n.*400_*401insAAGAGAAAG
ENST00000691903.1:c.*591_*592insAAGAGAAAG	ENSP00000510314.1:n.*591_*592insAAGAGAAAG
ENST00000369452.9:c.*400_*401insAAGAGAAAG MANE Select	ENSP00000358464.5:n.*400_*401insAAGAGAAAG
ENST00000265277.9:c.*400_*401insAAGAGAAAG	ENSP00000265277.5:n.*400_*401insAAGAGAAAG
ENST00000369452.8:c.*400_*401insAAGAGAAAG	ENSP00000358464.4:n.*400_*401insAAGAGAAAG
ENST00000451838.1:c.1519_1520insAAGAGAAAG	ENSP00000408275.1:n.1519_1520insAAGAGAAAG
NM_001269039.1:c.*400_*401insAAGAGAAAG	NP_001255968.1:n.*400_*401insAAGAGAAAG
NM_007373.3:c.*400_*401insAAGAGAAAG , LRG_753t1:c.*400_*401insAAGAGAAAG	NP_031399.2:n.*400_*401insAAGAGAAAG
XM_011540216.1:c.*400_*401insAAGAGAAAG	XP_011538518.1:n.*400_*401insAAGAGAAAG
NM_001269039.2:c.*400_*401insAAGAGAAAG	NP_001255968.1:n.*400_*401insAAGAGAAAG
NM_001324336.1:c.*400_*401insAAGAGAAAG	NP_001311265.1:n.*400_*401insAAGAGAAAG
NM_001324337.1:c.*400_*401insAAGAGAAAG	NP_001311266.1:n.*400_*401insAAGAGAAAG
NR_136749.1:n.1561_1562insAAGAGAAAG
NM_007373.4:c.*400_*401insAAGAGAAAG MANE Select	NP_031399.2:n.*400_*401insAAGAGAAAG
NM_001269039.3:c.*400_*401insAAGAGAAAG	NP_001255968.1:n.*400_*401insAAGAGAAAG
NM_001324336.2:c.*400_*401insAAGAGAAAG	NP_001311265.1:n.*400_*401insAAGAGAAAG
NM_001324337.2:c.*400_*401insAAGAGAAAG	NP_001311266.1:n.*400_*401insAAGAGAAAG
NR_136749.2:n.1500_1501insAAGAGAAAG