Canonical Allele Identifier: CA2575369465

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336229_23336231del , CM000675.2:g.23336229_23336231del	GRCh38
NC_000013.10:g.23910368_23910370del , CM000675.1:g.23910368_23910370del	GRCh37
NC_000013.9:g.22808368_22808370del	NCBI36
NG_012342.1:g.102476_102478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17558_2185+17560del	ENSP00000508399.1:n.2185+17558_2185+17560del
ENST00000682944.1:c.7676_7678del	ENSP00000507173.1:p.Leu2559del
ENST00000683210.1:c.2185+17558_2185+17560del	ENSP00000506739.1:n.2185+17558_2185+17560del
ENST00000683270.1:c.6445+1195_6445+1197del	ENSP00000507624.1:n.6445+1195_6445+1197del
ENST00000683367.1:c.2177-6743_2177-6741del	ENSP00000507780.1:n.2177-6743_2177-6741del
ENST00000683489.1:c.2291+5358_2291+5360del	ENSP00000508403.1:n.2291+5358_2291+5360del
ENST00000683680.1:c.2318+5358_2318+5360del	ENSP00000507223.1:n.2318+5358_2318+5360del
ENST00000684163.1:c.2204-6743_2204-6741del	ENSP00000508262.1:n.2204-6743_2204-6741del
ENST00000684196.1:n.4543-6743_4543-6741del
ENST00000684325.1:c.2186-14553_2186-14551del	ENSP00000508121.1:n.2186-14553_2186-14551del
ENST00000684385.1:c.2221-6743_2221-6741del	ENSP00000507855.1:n.2221-6743_2221-6741del
ENST00000684497.1:c.2186-13583_2186-13581del	ENSP00000507057.1:n.2186-13583_2186-13581del
ENST00000382292.9:c.7649_7651del MANE Select	ENSP00000371729.3:p.Leu2550del
ENST00000423156.2:c.2186-6743_2186-6741del	ENSP00000390925.2:n.2186-6743_2186-6741del
ENST00000455470.6:c.2431+5218_2431+5220del	ENSP00000406565.2:n.2431+5218_2431+5220del
ENST00000382292.7:c.7649_7651del	ENSP00000371729.3:p.Leu2550del
ENST00000382298.7:c.7649_7651del	ENSP00000371735.3:p.Leu2550del
ENST00000402364.1:c.5399_5401del	ENSP00000385844.1:p.Leu1800del
ENST00000423156.1:c.1058-6743_1058-6741del	ENSP00000390925.1:n.1058-6743_1058-6741del
ENST00000455470.5:c.2129+5218_2129+5220del
NM_001278055.1:c.7208_7210del	NP_001264984.1:p.Leu2403del
NM_014363.5:c.7649_7651del	NP_055178.3:p.Leu2550del
XM_005266338.1:c.7676_7678del	XP_005266395.1:p.Leu2559del
XM_011535038.1:c.7700_7702del	XP_011533340.1:p.Leu2567del
XM_011535039.1:c.7667_7669del	XP_011533341.1:p.Leu2556del
XM_005266338.2:c.7676_7678del	XP_005266395.1:p.Leu2559del
XM_011535039.2:c.7667_7669del	XP_011533341.1:p.Leu2556del
XM_017020539.1:c.7640_7642del	XP_016876028.1:p.Leu2547del
XM_024449337.1:c.7676_7678del	XP_024305105.1:p.Leu2559del
NM_014363.6:c.7649_7651del MANE Select	NP_055178.3:p.Leu2550del
NM_001278055.2:c.7208_7210del	NP_001264984.1:p.Leu2403del