Canonical Allele Identifier: CA2078621553

Gene: SACS SGCG

Linked Data

• dbSNP Id: rs1883165801
• gnomAD v4: 13-23324595-C-CTG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324595_23324596insTG , CM000675.2:g.23324595_23324596insTG	GRCh38
NC_000013.10:g.23898734_23898735insTG , CM000675.1:g.23898734_23898735insTG	GRCh37
NC_000013.9:g.22796734_22796735insTG	NCBI36
NG_008759.1:g.148675_148676insTG , LRG_207:g.148675_148676insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12481_2186-12480insCA (SACS)	ENSP00000508399.1:n.2186-12481_2186-12480insCA
ENST00000683210.1:c.2185+29189_2185+29190insCA (SACS)	ENSP00000506739.1:n.2185+29189_2185+29190insCA
ENST00000684325.1:c.2186-2922_2186-2921insCA (SACS)	ENSP00000508121.1:n.2186-2922_2186-2921insCA
ENST00000684497.1:c.2186-1952_2186-1951insCA (SACS)	ENSP00000507057.1:n.2186-1952_2186-1951insCA
ENST00000218867.4:c.*54_*55insTG (SGCG) MANE Select	ENSP00000218867.3:n.*54_*55insTG
ENST00000218867.3:c.*54_*55insTG (SGCG)	ENSP00000218867.3:n.*54_*55insTG
NM_000231.2:c.*54_*55insTG , LRG_207t1:c.*54_*55insTG (SGCG)	NP_000222.1:n.*54_*55insTG
XM_005266505.2:c.*54_*55insTG (SGCG)	XP_005266562.1:n.*54_*55insTG
XM_006719861.2:c.*54_*55insTG (SGCG)	XP_006719924.1:n.*54_*55insTG
XM_006719861.3:c.*54_*55insTG (SGCG)	XP_006719924.1:n.*54_*55insTG
XM_024449397.1:c.*54_*55insTG (SGCG)	XP_024305165.1:n.*54_*55insTG
NM_000231.3:c.*54_*55insTG (SGCG) MANE Select	NP_000222.2:n.*54_*55insTG
NM_001378244.1:c.*54_*55insTG (SGCG)	NP_001365173.1:n.*54_*55insTG
NM_001378245.1:c.*54_*55insTG (SGCG)	NP_001365174.1:n.*54_*55insTG
NM_001378246.1:c.*54_*55insTG (SGCG)	NP_001365175.1:n.*54_*55insTG