Canonical Allele Identifier: CA2622329036

Gene: SACS

Linked Data

• gnomAD v4: 13-23337615-C-CTCATCAACTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337620_23337631dup , CM000675.2:g.23337620_23337631dup	GRCh38
NC_000013.10:g.23911759_23911770dup , CM000675.1:g.23911759_23911770dup	GRCh37
NC_000013.9:g.22809759_22809770dup	NCBI36
NG_012342.1:g.101076_101087dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16158_2185+16169dup	ENSP00000508399.1:n.2185+16158_2185+16169dup
ENST00000682944.1:c.6276_6287dup	ENSP00000507173.1:p.Glu2096_Phe2097insLysValAspGlu
ENST00000683210.1:c.2185+16158_2185+16169dup	ENSP00000506739.1:n.2185+16158_2185+16169dup
ENST00000683270.1:c.6240_6251dup	ENSP00000507624.1:p.Glu2084_Phe2085insLysValAspGlu
ENST00000683367.1:c.2177-8143_2177-8132dup	ENSP00000507780.1:n.2177-8143_2177-8132dup
ENST00000683489.1:c.2291+3958_2291+3969dup	ENSP00000508403.1:n.2291+3958_2291+3969dup
ENST00000683680.1:c.2318+3958_2318+3969dup	ENSP00000507223.1:n.2318+3958_2318+3969dup
ENST00000684163.1:c.2204-8143_2204-8132dup	ENSP00000508262.1:n.2204-8143_2204-8132dup
ENST00000684196.1:n.4543-8143_4543-8132dup
ENST00000684325.1:c.2186-15953_2186-15942dup	ENSP00000508121.1:n.2186-15953_2186-15942dup
ENST00000684385.1:c.2221-8143_2221-8132dup	ENSP00000507855.1:n.2221-8143_2221-8132dup
ENST00000684497.1:c.2186-14983_2186-14972dup	ENSP00000507057.1:n.2186-14983_2186-14972dup
ENST00000382292.9:c.6249_6260dup MANE Select	ENSP00000371729.3:p.Glu2087_Phe2088insLysValAspGlu
ENST00000423156.2:c.2186-8143_2186-8132dup	ENSP00000390925.2:n.2186-8143_2186-8132dup
ENST00000455470.6:c.2431+3818_2431+3829dup	ENSP00000406565.2:n.2431+3818_2431+3829dup
ENST00000382292.7:c.6249_6260dup	ENSP00000371729.3:p.Glu2087_Phe2088insLysValAspGlu
ENST00000382298.7:c.6249_6260dup	ENSP00000371735.3:p.Glu2087_Phe2088insLysValAspGlu
ENST00000402364.1:c.3999_4010dup	ENSP00000385844.1:p.Glu1337_Phe1338insLysValAspGlu
ENST00000423156.1:c.1058-8143_1058-8132dup	ENSP00000390925.1:n.1058-8143_1058-8132dup
ENST00000455470.5:c.2129+3818_2129+3829dup
NM_001278055.1:c.5808_5819dup	NP_001264984.1:p.Glu1940_Phe1941insLysValAspGlu
NM_014363.5:c.6249_6260dup	NP_055178.3:p.Glu2087_Phe2088insLysValAspGlu
XM_005266338.1:c.6276_6287dup	XP_005266395.1:p.Glu2096_Phe2097insLysValAspGlu
XM_011535038.1:c.6300_6311dup	XP_011533340.1:p.Glu2104_Phe2105insLysValAspGlu
XM_011535039.1:c.6267_6278dup	XP_011533341.1:p.Glu2093_Phe2094insLysValAspGlu
XM_005266338.2:c.6276_6287dup	XP_005266395.1:p.Glu2096_Phe2097insLysValAspGlu
XM_011535039.2:c.6267_6278dup	XP_011533341.1:p.Glu2093_Phe2094insLysValAspGlu
XM_017020539.1:c.6240_6251dup	XP_016876028.1:p.Glu2084_Phe2085insLysValAspGlu
XM_024449337.1:c.6276_6287dup	XP_024305105.1:p.Glu2096_Phe2097insLysValAspGlu
NM_014363.6:c.6249_6260dup MANE Select	NP_055178.3:p.Glu2087_Phe2088insLysValAspGlu
NM_001278055.2:c.5808_5819dup	NP_001264984.1:p.Glu1940_Phe1941insLysValAspGlu