Canonical Allele Identifier: CA2622329059

Gene: SACS

Linked Data

• gnomAD v4: 13-23340694-A-ATATCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340694_23340695insTATCAGG , CM000675.2:g.23340694_23340695insTATCAGG	GRCh38
NC_000013.10:g.23914833_23914834insTATCAGG , CM000675.1:g.23914833_23914834insTATCAGG	GRCh37
NC_000013.9:g.22812833_22812834insTATCAGG	NCBI36
NG_012342.1:g.98008_98009insCCTGATA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+13090_2185+13091insCCTGATA	ENSP00000508399.1:n.2185+13090_2185+13091insCCTGATA
ENST00000682944.1:c.3208_3209insCCTGATA	ENSP00000507173.1:p.Leu1070ProfsTer2
ENST00000683210.1:c.2185+13090_2185+13091insCCTGATA	ENSP00000506739.1:n.2185+13090_2185+13091insCCTGATA
ENST00000683270.1:c.3172_3173insCCTGATA	ENSP00000507624.1:p.Leu1058ProfsTer2
ENST00000683367.1:c.2177-11211_2177-11210insCCTGATA	ENSP00000507780.1:n.2177-11211_2177-11210insCCTGATA
ENST00000683489.1:c.2291+890_2291+891insCCTGATA	ENSP00000508403.1:n.2291+890_2291+891insCCTGATA
ENST00000683680.1:c.2318+890_2318+891insCCTGATA	ENSP00000507223.1:n.2318+890_2318+891insCCTGATA
ENST00000684163.1:c.2203+6116_2203+6117insCCTGATA	ENSP00000508262.1:n.2203+6116_2203+6117insCCTGATA
ENST00000684196.1:n.4543-11211_4543-11210insCCTGATA
ENST00000684325.1:c.2185+13090_2185+13091insCCTGATA	ENSP00000508121.1:n.2185+13090_2185+13091insCCTGATA
ENST00000684385.1:c.2220+6116_2220+6117insCCTGATA	ENSP00000507855.1:n.2220+6116_2220+6117insCCTGATA
ENST00000684497.1:c.2185+13090_2185+13091insCCTGATA	ENSP00000507057.1:n.2185+13090_2185+13091insCCTGATA
ENST00000382292.9:c.3181_3182insCCTGATA MANE Select	ENSP00000371729.3:p.Leu1061ProfsTer2
ENST00000423156.2:c.2186-11211_2186-11210insCCTGATA	ENSP00000390925.2:n.2186-11211_2186-11210insCCTGATA
ENST00000455470.6:c.2431+750_2431+751insCCTGATA	ENSP00000406565.2:n.2431+750_2431+751insCCTGATA
ENST00000382292.7:c.3181_3182insCCTGATA	ENSP00000371729.3:p.Leu1061ProfsTer2
ENST00000382298.7:c.3181_3182insCCTGATA	ENSP00000371735.3:p.Leu1061ProfsTer2
ENST00000402364.1:c.931_932insCCTGATA	ENSP00000385844.1:p.Leu311ProfsTer2
ENST00000423156.1:c.1058-11211_1058-11210insCCTGATA	ENSP00000390925.1:n.1058-11211_1058-11210insCCTGATA
ENST00000455470.5:c.2129+750_2129+751insCCTGATA
NM_001278055.1:c.2740_2741insCCTGATA	NP_001264984.1:p.Leu914ProfsTer2
NM_014363.5:c.3181_3182insCCTGATA	NP_055178.3:p.Leu1061ProfsTer2
XM_005266338.1:c.3208_3209insCCTGATA	XP_005266395.1:p.Leu1070ProfsTer2
XM_011535038.1:c.3232_3233insCCTGATA	XP_011533340.1:p.Leu1078ProfsTer2
XM_011535039.1:c.3199_3200insCCTGATA	XP_011533341.1:p.Leu1067ProfsTer2
XM_005266338.2:c.3208_3209insCCTGATA	XP_005266395.1:p.Leu1070ProfsTer2
XM_011535039.2:c.3199_3200insCCTGATA	XP_011533341.1:p.Leu1067ProfsTer2
XM_017020539.1:c.3172_3173insCCTGATA	XP_016876028.1:p.Leu1058ProfsTer2
XM_024449337.1:c.3208_3209insCCTGATA	XP_024305105.1:p.Leu1070ProfsTer2
NM_014363.6:c.3181_3182insCCTGATA MANE Select	NP_055178.3:p.Leu1061ProfsTer2
NM_001278055.2:c.2740_2741insCCTGATA	NP_001264984.1:p.Leu914ProfsTer2