Canonical Allele Identifier: CA2622329055

Gene: SACS

Linked Data

• gnomAD v4: 13-23340615-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340616_23340618del , CM000675.2:g.23340616_23340618del	GRCh38
NC_000013.10:g.23914755_23914757del , CM000675.1:g.23914755_23914757del	GRCh37
NC_000013.9:g.22812755_22812757del	NCBI36
NG_012342.1:g.98085_98087del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13167_2185+13169del	ENSP00000508399.1:n.2185+13167_2185+13169...
ENST00000682944.1:c.3285_3287del	ENSP00000507173.1:p.Leu1096del
ENST00000683210.1:c.2185+13167_2185+13169del	ENSP00000506739.1:n.2185+13167_2185+13169...
ENST00000683270.1:c.3249_3251del	ENSP00000507624.1:p.Leu1084del
ENST00000683367.1:c.2177-11134_2177-11132del	ENSP00000507780.1:n.2177-11134_2177-11132...
ENST00000683489.1:c.2291+967_2291+969del	ENSP00000508403.1:n.2291+967_2291+969del
ENST00000683680.1:c.2318+967_2318+969del	ENSP00000507223.1:n.2318+967_2318+969del
ENST00000684163.1:c.2203+6193_2203+6195del	ENSP00000508262.1:n.2203+6193_2203+6195de...
ENST00000684196.1:n.4543-11134_4543-11132del
ENST00000684325.1:c.2185+13167_2185+13169del	ENSP00000508121.1:n.2185+13167_2185+13169...
ENST00000684385.1:c.2220+6193_2220+6195del	ENSP00000507855.1:n.2220+6193_2220+6195de...
ENST00000684497.1:c.2185+13167_2185+13169del	ENSP00000507057.1:n.2185+13167_2185+13169...
ENST00000382292.9:c.3258_3260del MANE Select	ENSP00000371729.3:p.Leu1087del
ENST00000423156.2:c.2186-11134_2186-11132del	ENSP00000390925.2:n.2186-11134_2186-11132...
ENST00000455470.6:c.2431+827_2431+829del	ENSP00000406565.2:n.2431+827_2431+829del
ENST00000382292.7:c.3258_3260del	ENSP00000371729.3:p.Leu1087del
ENST00000382298.7:c.3258_3260del	ENSP00000371735.3:p.Leu1087del
ENST00000402364.1:c.1008_1010del	ENSP00000385844.1:p.Leu337del
ENST00000423156.1:c.1058-11134_1058-11132del	ENSP00000390925.1:n.1058-11134_1058-11132...
ENST00000455470.5:c.2129+827_2129+829del
NM_001278055.1:c.2817_2819del	NP_001264984.1:p.Leu940del
NM_014363.5:c.3258_3260del	NP_055178.3:p.Leu1087del
XM_005266338.1:c.3285_3287del	XP_005266395.1:p.Leu1096del
XM_011535038.1:c.3309_3311del	XP_011533340.1:p.Leu1104del
XM_011535039.1:c.3276_3278del	XP_011533341.1:p.Leu1093del
XM_005266338.2:c.3285_3287del	XP_005266395.1:p.Leu1096del
XM_011535039.2:c.3276_3278del	XP_011533341.1:p.Leu1093del
XM_017020539.1:c.3249_3251del	XP_016876028.1:p.Leu1084del
XM_024449337.1:c.3285_3287del	XP_024305105.1:p.Leu1096del
NM_014363.6:c.3258_3260del MANE Select	NP_055178.3:p.Leu1087del
NM_001278055.2:c.2817_2819del	NP_001264984.1:p.Leu940del