Canonical Allele Identifier: CA2078621085

Gene: SACS SGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23324383_23324384delinsGA , CM000675.2:g.23324383_23324384delinsGA	GRCh38
NC_000013.10:g.23898522_23898523delinsGA , CM000675.1:g.23898522_23898523delinsGA	GRCh37
NC_000013.9:g.22796522_22796523delinsGA	NCBI36
NG_008759.1:g.148463_148464delinsGA , LRG_207:g.148463_148464delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-12269_2186-12268delinsTC (SACS)	ENSP00000508399.1:n.2186-12269_2186-12268delinsTC
ENST00000683210.1:c.2185+29401_2185+29402delinsTC (SACS)	ENSP00000506739.1:n.2185+29401_2185+29402delinsTC
ENST00000684325.1:c.2186-2710_2186-2709delinsTC (SACS)	ENSP00000508121.1:n.2186-2710_2186-2709delinsTC
ENST00000684497.1:c.2186-1740_2186-1739delinsTC (SACS)	ENSP00000507057.1:n.2186-1740_2186-1739delinsTC
ENST00000218867.4:c.718_719delinsGA (SGCG) MANE Select	ENSP00000218867.3:p.Glu240=
ENST00000218867.3:c.718_719delinsGA (SGCG)	ENSP00000218867.3:p.Glu240=
NM_000231.2:c.718_719delinsGA , LRG_207t1:c.718_719delinsGA (SGCG)	NP_000222.1:p.Glu240=
XM_005266505.2:c.718_719delinsGA (SGCG)	XP_005266562.1:p.Glu240=
XM_006719861.2:c.772_773delinsGA (SGCG)	XP_006719924.1:p.Glu258=
XM_006719861.3:c.772_773delinsGA (SGCG)	XP_006719924.1:p.Glu258=
XM_024449397.1:c.718_719delinsGA (SGCG)	XP_024305165.1:p.Glu240=
NM_000231.3:c.718_719delinsGA (SGCG) MANE Select	NP_000222.2:p.Glu240=
NM_001378244.1:c.772_773delinsGA (SGCG)	NP_001365173.1:p.Glu258=
NM_001378245.1:c.718_719delinsGA (SGCG)	NP_001365174.1:p.Glu240=
NM_001378246.1:c.718_719delinsGA (SGCG)	NP_001365175.1:p.Glu240=