Canonical Allele Identifier: CA2622327800

Gene: SACS SGCG

Linked Data

• gnomAD v4: 13-23324572-G-GTGCCGGCCCCAGATCCTCACACCCAGGGAGCAGCTGCACATCGTGAAAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324573_23324622dup , CM000675.2:g.23324573_23324622dup	GRCh38
NC_000013.10:g.23898712_23898761dup , CM000675.1:g.23898712_23898761dup	GRCh37
NC_000013.9:g.22796712_22796761dup	NCBI36
NG_008759.1:g.148653_148702dup , LRG_207:g.148653_148702dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12507_2186-12458dup (SACS)	ENSP00000508399.1:n.2186-12507_2186-12458dup
ENST00000683210.1:c.2185+29163_2185+29212dup (SACS)	ENSP00000506739.1:n.2185+29163_2185+29212dup
ENST00000684325.1:c.2186-2948_2186-2899dup (SACS)	ENSP00000508121.1:n.2186-2948_2186-2899dup
ENST00000684497.1:c.2186-1978_2186-1929dup (SACS)	ENSP00000507057.1:n.2186-1978_2186-1929dup
ENST00000218867.4:c.*32_*81dup (SGCG) MANE Select	ENSP00000218867.3:n.*32_*81dup
ENST00000218867.3:c.*32_*81dup (SGCG)	ENSP00000218867.3:n.*32_*81dup
NM_000231.2:c.*32_*81dup , LRG_207t1:c.*32_*81dup (SGCG)	NP_000222.1:n.*32_*81dup
XM_005266505.2:c.*32_*81dup (SGCG)	XP_005266562.1:n.*32_*81dup
XM_006719861.2:c.*32_*81dup (SGCG)	XP_006719924.1:n.*32_*81dup
XM_006719861.3:c.*32_*81dup (SGCG)	XP_006719924.1:n.*32_*81dup
XM_024449397.1:c.*32_*81dup (SGCG)	XP_024305165.1:n.*32_*81dup
NM_000231.3:c.*32_*81dup (SGCG) MANE Select	NP_000222.2:n.*32_*81dup
NM_001378244.1:c.*32_*81dup (SGCG)	NP_001365173.1:n.*32_*81dup
NM_001378245.1:c.*32_*81dup (SGCG)	NP_001365174.1:n.*32_*81dup
NM_001378246.1:c.*32_*81dup (SGCG)	NP_001365175.1:n.*32_*81dup