Canonical Allele Identifier: CA954042710

Gene: SACS SGCG

Linked Data

• dbSNP Id: rs1883163297
• gnomAD v3: 13-23324553-CCT-C
• gnomAD v4: 13-23324553-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324557_23324558del , CM000675.2:g.23324557_23324558del	GRCh38
NC_000013.10:g.23898696_23898697del , CM000675.1:g.23898696_23898697del	GRCh37
NC_000013.9:g.22796696_22796697del	NCBI36
NG_008759.1:g.148637_148638del , LRG_207:g.148637_148638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12440_2186-12439del (SACS)	ENSP00000508399.1:n.2186-12440_2186-12439del
ENST00000683210.1:c.2185+29230_2185+29231del (SACS)	ENSP00000506739.1:n.2185+29230_2185+29231del
ENST00000684325.1:c.2186-2881_2186-2880del (SACS)	ENSP00000508121.1:n.2186-2881_2186-2880del
ENST00000684497.1:c.2186-1911_2186-1910del (SACS)	ENSP00000507057.1:n.2186-1911_2186-1910del
ENST00000218867.4:c.*16_*17del (SGCG) MANE Select	ENSP00000218867.3:n.*16_*17del
ENST00000218867.3:c.*16_*17del (SGCG)	ENSP00000218867.3:n.*16_*17del
NM_000231.2:c.*16_*17del , LRG_207t1:c.*16_*17del (SGCG)	NP_000222.1:n.*16_*17del
XM_005266505.2:c.*16_*17del (SGCG)	XP_005266562.1:n.*16_*17del
XM_006719861.2:c.*16_*17del (SGCG)	XP_006719924.1:n.*16_*17del
XM_006719861.3:c.*16_*17del (SGCG)	XP_006719924.1:n.*16_*17del
XM_024449397.1:c.*16_*17del (SGCG)	XP_024305165.1:n.*16_*17del
NM_000231.3:c.*16_*17del (SGCG) MANE Select	NP_000222.2:n.*16_*17del
NM_001378244.1:c.*16_*17del (SGCG)	NP_001365173.1:n.*16_*17del
NM_001378245.1:c.*16_*17del (SGCG)	NP_001365174.1:n.*16_*17del
NM_001378246.1:c.*16_*17del (SGCG)	NP_001365175.1:n.*16_*17del