Canonical Allele Identifier: CA2610906546

Gene: SHOC2

Linked Data

• gnomAD v4: 10-110964899-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.110964900_110964901del , CM000672.2:g.110964900_110964901del	GRCh38
NC_000010.10:g.112724658_112724659del , CM000672.1:g.112724658_112724659del	GRCh37
NC_000010.9:g.112714648_112714649del	NCBI36
NG_028922.1:g.50358_50359del , LRG_753:g.50358_50359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265277.10:c.542_543del	ENSP00000265277.5:p.Leu181GlnfsTer9
ENST00000451838.2:c.-242-35515_-242-35514del	ENSP00000408275.2:n.-242-35515_-242-35514del
ENST00000480155.2:n.778_779del
ENST00000685059.1:c.542_543del	ENSP00000510210.1:p.Leu181GlnfsTer9
ENST00000685613.1:c.542_543del	ENSP00000510564.1:p.Leu181GlnfsTer9
ENST00000687592.1:n.841_842del
ENST00000688928.1:c.542_543del	ENSP00000509273.1:p.Leu181GlnfsTer9
ENST00000689118.1:c.542_543del	ENSP00000510554.1:p.Leu181GlnfsTer9
ENST00000689300.1:c.542_543del	ENSP00000510639.1:p.Leu181GlnfsTer9
ENST00000689997.1:c.-380-20728_-380-20727del	ENSP00000510700.1:n.-380-20728_-380-20727del
ENST00000691151.1:n.834_835del
ENST00000691369.1:c.542_543del	ENSP00000509754.1:p.Leu181GlnfsTer9
ENST00000691441.1:c.542_543del	ENSP00000509686.1:p.Leu181GlnfsTer9
ENST00000691903.1:c.542_543del	ENSP00000510314.1:p.Leu181GlnfsTer9
ENST00000692776.1:c.542_543del	ENSP00000508524.1:p.Leu181GlnfsTer9
ENST00000369452.9:c.542_543del MANE Select	ENSP00000358464.5:p.Leu181GlnfsTer9
ENST00000265277.9:c.542_543del	ENSP00000265277.5:p.Leu181GlnfsTer9
ENST00000369452.8:c.542_543del	ENSP00000358464.4:p.Leu181GlnfsTer9
ENST00000451838.1:c.50_51del	ENSP00000408275.1:p.Leu17GlnfsTer9
ENST00000489390.1:n.56-35515_56-35514del
NM_001269039.1:c.542_543del	NP_001255968.1:p.Leu181GlnfsTer9
NM_007373.3:c.542_543del , LRG_753t1:c.542_543del	NP_031399.2:p.Leu181GlnfsTer9
XM_011540216.1:c.-380-20728_-380-20727del	XP_011538518.1:n.-380-20728_-380-20727del
NM_001269039.2:c.542_543del	NP_001255968.1:p.Leu181GlnfsTer9
NM_001324336.1:c.542_543del	NP_001311265.1:p.Leu181GlnfsTer9
NM_001324337.1:c.542_543del	NP_001311266.1:p.Leu181GlnfsTer9
NR_136749.1:n.116-20728_116-20727del
NM_007373.4:c.542_543del MANE Select	NP_031399.2:p.Leu181GlnfsTer9
NM_001269039.3:c.542_543del	NP_001255968.1:p.Leu181GlnfsTer9
NM_001324336.2:c.542_543del	NP_001311265.1:p.Leu181GlnfsTer9
NM_001324337.2:c.542_543del	NP_001311266.1:p.Leu181GlnfsTer9
NR_136749.2:n.55-20728_55-20727del