Canonical Allele Identifier: CA2622329026

Gene: SACS

Linked Data

• gnomAD v4: 13-23336833-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336833_23336834insT , CM000675.2:g.23336833_23336834insT	GRCh38
NC_000013.10:g.23910972_23910973insT , CM000675.1:g.23910972_23910973insT	GRCh37
NC_000013.9:g.22808972_22808973insT	NCBI36
NG_012342.1:g.101869_101870insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16951_2185+16952insA	ENSP00000508399.1:n.2185+16951_2185+16952insA
ENST00000682944.1:c.7069_7070insA	ENSP00000507173.1:p.Leu2357HisfsTer3
ENST00000683210.1:c.2185+16951_2185+16952insA	ENSP00000506739.1:n.2185+16951_2185+16952insA
ENST00000683270.1:c.6445+588_6445+589insA	ENSP00000507624.1:n.6445+588_6445+589insA
ENST00000683367.1:c.2177-7350_2177-7349insA	ENSP00000507780.1:n.2177-7350_2177-7349insA
ENST00000683489.1:c.2291+4751_2291+4752insA	ENSP00000508403.1:n.2291+4751_2291+4752insA
ENST00000683680.1:c.2318+4751_2318+4752insA	ENSP00000507223.1:n.2318+4751_2318+4752insA
ENST00000684163.1:c.2204-7350_2204-7349insA	ENSP00000508262.1:n.2204-7350_2204-7349insA
ENST00000684196.1:n.4543-7350_4543-7349insA
ENST00000684325.1:c.2186-15160_2186-15159insA	ENSP00000508121.1:n.2186-15160_2186-15159insA
ENST00000684385.1:c.2221-7350_2221-7349insA	ENSP00000507855.1:n.2221-7350_2221-7349insA
ENST00000684497.1:c.2186-14190_2186-14189insA	ENSP00000507057.1:n.2186-14190_2186-14189insA
ENST00000382292.9:c.7042_7043insA MANE Select	ENSP00000371729.3:p.Leu2348HisfsTer3
ENST00000423156.2:c.2186-7350_2186-7349insA	ENSP00000390925.2:n.2186-7350_2186-7349insA
ENST00000455470.6:c.2431+4611_2431+4612insA	ENSP00000406565.2:n.2431+4611_2431+4612insA
ENST00000382292.7:c.7042_7043insA	ENSP00000371729.3:p.Leu2348HisfsTer3
ENST00000382298.7:c.7042_7043insA	ENSP00000371735.3:p.Leu2348HisfsTer3
ENST00000402364.1:c.4792_4793insA	ENSP00000385844.1:p.Leu1598HisfsTer3
ENST00000423156.1:c.1058-7350_1058-7349insA	ENSP00000390925.1:n.1058-7350_1058-7349insA
ENST00000455470.5:c.2129+4611_2129+4612insA
NM_001278055.1:c.6601_6602insA	NP_001264984.1:p.Leu2201HisfsTer3
NM_014363.5:c.7042_7043insA	NP_055178.3:p.Leu2348HisfsTer3
XM_005266338.1:c.7069_7070insA	XP_005266395.1:p.Leu2357HisfsTer3
XM_011535038.1:c.7093_7094insA	XP_011533340.1:p.Leu2365HisfsTer3
XM_011535039.1:c.7060_7061insA	XP_011533341.1:p.Leu2354HisfsTer3
XM_005266338.2:c.7069_7070insA	XP_005266395.1:p.Leu2357HisfsTer3
XM_011535039.2:c.7060_7061insA	XP_011533341.1:p.Leu2354HisfsTer3
XM_017020539.1:c.7033_7034insA	XP_016876028.1:p.Leu2345HisfsTer3
XM_024449337.1:c.7069_7070insA	XP_024305105.1:p.Leu2357HisfsTer3
NM_014363.6:c.7042_7043insA MANE Select	NP_055178.3:p.Leu2348HisfsTer3
NM_001278055.2:c.6601_6602insA	NP_001264984.1:p.Leu2201HisfsTer3