Canonical Allele Identifier: CA658823498

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324379_23324384del , CM000675.2:g.23324379_23324384del	GRCh38
NC_000013.10:g.23898518_23898523del , CM000675.1:g.23898518_23898523del	GRCh37
NC_000013.9:g.22796518_22796523del	NCBI36
NG_008759.1:g.148459_148464del , LRG_207:g.148459_148464del

Transcript Alleles

HGVS	Amino-acid Change
NM_000231.3:c.714_719del (SGCG) MANE Select	NP_000222.2:p.Asp238_Ala239del
ENST00000218867.4:c.714_719del (SGCG) MANE Select	ENSP00000218867.3:p.Asp238_Ala239del
NM_000231.2:c.714_719del , LRG_207t1:c.714_719del (SGCG)	NP_000222.1:p.Asp238_Ala239del
NM_001378244.1:c.768_773del (SGCG)	NP_001365173.1:p.Asp256_Ala257del
NM_001378245.1:c.714_719del (SGCG)	NP_001365174.1:p.Asp238_Ala239del
NM_001378246.1:c.714_719del (SGCG)	NP_001365175.1:p.Asp238_Ala239del
ENST00000218867.3:c.714_719del (SGCG)	ENSP00000218867.3:p.Asp238_Ala239del
ENST00000682775.1:c.2186-12266_2186-12261del (SACS)	ENSP00000508399.1:n.2186-12266_2186-12261del
ENST00000683210.1:c.2185+29404_2185+29409del (SACS)	ENSP00000506739.1:n.2185+29404_2185+29409del
ENST00000684325.1:c.2186-2707_2186-2702del (SACS)	ENSP00000508121.1:n.2186-2707_2186-2702del
ENST00000684497.1:c.2186-1737_2186-1732del (SACS)	ENSP00000507057.1:n.2186-1737_2186-1732del
XM_005266505.2:c.714_719del (SGCG)	XP_005266562.1:p.Asp238_Ala239del
XM_006719861.2:c.768_773del (SGCG)	XP_006719924.1:p.Asp256_Ala257del
XM_006719861.3:c.768_773del (SGCG)	XP_006719924.1:p.Asp256_Ala257del
XM_024449397.1:c.714_719del (SGCG)	XP_024305165.1:p.Asp238_Ala239del