Canonical Allele Identifier: CA2575369470

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337960_23337975del , CM000675.2:g.23337960_23337975del	GRCh38
NC_000013.10:g.23912099_23912114del , CM000675.1:g.23912099_23912114del	GRCh37
NC_000013.9:g.22810099_22810114del	NCBI36
NG_012342.1:g.100729_100744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15811_2185+15826del	ENSP00000508399.1:n.2185+15811_2185+15826del
ENST00000682944.1:c.5929_5944del	ENSP00000507173.1:p.Ala1977LysfsTer3
ENST00000683210.1:c.2185+15811_2185+15826del	ENSP00000506739.1:n.2185+15811_2185+15826del
ENST00000683270.1:c.5893_5908del	ENSP00000507624.1:p.Ala1965LysfsTer3
ENST00000683367.1:c.2177-8490_2177-8475del	ENSP00000507780.1:n.2177-8490_2177-8475del
ENST00000683489.1:c.2291+3611_2291+3626del	ENSP00000508403.1:n.2291+3611_2291+3626del
ENST00000683680.1:c.2318+3611_2318+3626del	ENSP00000507223.1:n.2318+3611_2318+3626del
ENST00000684163.1:c.2204-8490_2204-8475del	ENSP00000508262.1:n.2204-8490_2204-8475del
ENST00000684196.1:n.4543-8490_4543-8475del
ENST00000684325.1:c.2185+15811_2185+15826del	ENSP00000508121.1:n.2185+15811_2185+15826del
ENST00000684385.1:c.2221-8490_2221-8475del	ENSP00000507855.1:n.2221-8490_2221-8475del
ENST00000684497.1:c.2186-15330_2186-15315del	ENSP00000507057.1:n.2186-15330_2186-15315del
ENST00000382292.9:c.5902_5917del MANE Select	ENSP00000371729.3:p.Ala1968LysfsTer3
ENST00000423156.2:c.2186-8490_2186-8475del	ENSP00000390925.2:n.2186-8490_2186-8475del
ENST00000455470.6:c.2431+3471_2431+3486del	ENSP00000406565.2:n.2431+3471_2431+3486del
ENST00000382292.7:c.5902_5917del	ENSP00000371729.3:p.Ala1968LysfsTer3
ENST00000382298.7:c.5902_5917del	ENSP00000371735.3:p.Ala1968LysfsTer3
ENST00000402364.1:c.3652_3667del	ENSP00000385844.1:p.Ala1218LysfsTer3
ENST00000423156.1:c.1058-8490_1058-8475del	ENSP00000390925.1:n.1058-8490_1058-8475del
ENST00000455470.5:c.2129+3471_2129+3486del
NM_001278055.1:c.5461_5476del	NP_001264984.1:p.Ala1821LysfsTer3
NM_014363.5:c.5902_5917del	NP_055178.3:p.Ala1968LysfsTer3
XM_005266338.1:c.5929_5944del	XP_005266395.1:p.Ala1977LysfsTer3
XM_011535038.1:c.5953_5968del	XP_011533340.1:p.Ala1985LysfsTer3
XM_011535039.1:c.5920_5935del	XP_011533341.1:p.Ala1974LysfsTer3
XM_005266338.2:c.5929_5944del	XP_005266395.1:p.Ala1977LysfsTer3
XM_011535039.2:c.5920_5935del	XP_011533341.1:p.Ala1974LysfsTer3
XM_017020539.1:c.5893_5908del	XP_016876028.1:p.Ala1965LysfsTer3
XM_024449337.1:c.5929_5944del	XP_024305105.1:p.Ala1977LysfsTer3
NM_014363.6:c.5902_5917del MANE Select	NP_055178.3:p.Ala1968LysfsTer3
NM_001278055.2:c.5461_5476del	NP_001264984.1:p.Ala1821LysfsTer3