Canonical Allele Identifier: CA954042621

Gene: SACS SGCG

Linked Data

• dbSNP Id: rs1667422675
• gnomAD v3: 13-23324352-ATCT-A
• gnomAD v4: 13-23324352-ATCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324356_23324358del , CM000675.2:g.23324356_23324358del	GRCh38
NC_000013.10:g.23898495_23898497del , CM000675.1:g.23898495_23898497del	GRCh37
NC_000013.9:g.22796495_22796497del	NCBI36
NG_008759.1:g.148436_148438del , LRG_207:g.148436_148438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12240_2186-12238del (SACS)	ENSP00000508399.1:n.2186-12240_2186-12238del
ENST00000683210.1:c.2185+29430_2185+29432del (SACS)	ENSP00000506739.1:n.2185+29430_2185+29432del
ENST00000684325.1:c.2186-2681_2186-2679del (SACS)	ENSP00000508121.1:n.2186-2681_2186-2679del
ENST00000684497.1:c.2186-1711_2186-1709del (SACS)	ENSP00000507057.1:n.2186-1711_2186-1709del
ENST00000218867.4:c.703-12_703-10del (SGCG) MANE Select	ENSP00000218867.3:n.703-12_703-10del
ENST00000218867.3:c.703-12_703-10del (SGCG)	ENSP00000218867.3:n.703-12_703-10del
NM_000231.2:c.703-12_703-10del , LRG_207t1:c.703-12_703-10del (SGCG)	NP_000222.1:n.703-12_703-10del
XM_005266505.2:c.703-12_703-10del (SGCG)	XP_005266562.1:n.703-12_703-10del
XM_006719861.2:c.757-12_757-10del (SGCG)	XP_006719924.1:n.757-12_757-10del
XM_006719861.3:c.757-12_757-10del (SGCG)	XP_006719924.1:n.757-12_757-10del
XM_024449397.1:c.703-12_703-10del (SGCG)	XP_024305165.1:n.703-12_703-10del
NM_000231.3:c.703-12_703-10del (SGCG) MANE Select	NP_000222.2:n.703-12_703-10del
NM_001378244.1:c.757-12_757-10del (SGCG)	NP_001365173.1:n.757-12_757-10del
NM_001378245.1:c.703-12_703-10del (SGCG)	NP_001365174.1:n.703-12_703-10del
NM_001378246.1:c.703-12_703-10del (SGCG)	NP_001365175.1:n.703-12_703-10del