Canonical Allele Identifier: CA2836199918

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334647_23334649del , CM000675.2:g.23334647_23334649del	GRCh38
NC_000013.10:g.23908786_23908788del , CM000675.1:g.23908786_23908788del	GRCh37
NC_000013.9:g.22806786_22806788del	NCBI36
NG_012342.1:g.104056_104058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19138_2185+19140del	ENSP00000508399.1:n.2185+19138_2185+19140del
ENST00000682944.1:c.9256_9258del	ENSP00000507173.1:p.Ala3086del
ENST00000683210.1:c.2185+19138_2185+19140del	ENSP00000506739.1:n.2185+19138_2185+19140del
ENST00000683270.1:c.6445+2775_6445+2777del	ENSP00000507624.1:n.6445+2775_6445+2777del
ENST00000683367.1:c.2177-5163_2177-5161del	ENSP00000507780.1:n.2177-5163_2177-5161del
ENST00000683489.1:c.2292-4695_2292-4693del	ENSP00000508403.1:n.2292-4695_2292-4693del
ENST00000683680.1:c.2319-4695_2319-4693del	ENSP00000507223.1:n.2319-4695_2319-4693del
ENST00000684163.1:c.2204-5163_2204-5161del	ENSP00000508262.1:n.2204-5163_2204-5161del
ENST00000684196.1:n.4543-5163_4543-5161del
ENST00000684325.1:c.2186-12973_2186-12971del	ENSP00000508121.1:n.2186-12973_2186-12971del
ENST00000684385.1:c.2221-5163_2221-5161del	ENSP00000507855.1:n.2221-5163_2221-5161del
ENST00000684497.1:c.2186-12003_2186-12001del	ENSP00000507057.1:n.2186-12003_2186-12001del
ENST00000382292.9:c.9229_9231del MANE Select	ENSP00000371729.3:p.Ala3077del
ENST00000423156.2:c.2186-5163_2186-5161del	ENSP00000390925.2:n.2186-5163_2186-5161del
ENST00000455470.6:c.2432-5163_2432-5161del	ENSP00000406565.2:n.2432-5163_2432-5161del
ENST00000382292.7:c.9229_9231del	ENSP00000371729.3:p.Ala3077del
ENST00000382298.7:c.9229_9231del	ENSP00000371735.3:p.Ala3077del
ENST00000402364.1:c.6979_6981del	ENSP00000385844.1:p.Ala2327del
ENST00000423156.1:c.1058-5163_1058-5161del	ENSP00000390925.1:n.1058-5163_1058-5161del
ENST00000455470.5:c.2130-5163_2130-5161del
NM_001278055.1:c.8788_8790del	NP_001264984.1:p.Ala2930del
NM_014363.5:c.9229_9231del	NP_055178.3:p.Ala3077del
XM_005266338.1:c.9256_9258del	XP_005266395.1:p.Ala3086del
XM_011535038.1:c.9280_9282del	XP_011533340.1:p.Ala3094del
XM_011535039.1:c.9247_9249del	XP_011533341.1:p.Ala3083del
XM_005266338.2:c.9256_9258del	XP_005266395.1:p.Ala3086del
XM_011535039.2:c.9247_9249del	XP_011533341.1:p.Ala3083del
XM_017020539.1:c.9220_9222del	XP_016876028.1:p.Ala3074del
XM_024449337.1:c.9256_9258del	XP_024305105.1:p.Ala3086del
NM_014363.6:c.9229_9231del MANE Select	NP_055178.3:p.Ala3077del
NM_001278055.2:c.8788_8790del	NP_001264984.1:p.Ala2930del