Canonical Allele Identifier: CA2695217739

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337709_23337710del , CM000675.2:g.23337709_23337710del	GRCh38
NC_000013.10:g.23911848_23911849del , CM000675.1:g.23911848_23911849del	GRCh37
NC_000013.9:g.22809848_22809849del	NCBI36
NG_012342.1:g.100998_100999del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16080_2185+16081del	ENSP00000508399.1:n.2185+16080_2185+16081del
ENST00000682944.1:c.6198_6199del	ENSP00000507173.1:p.Ser2067Ter
ENST00000683210.1:c.2185+16080_2185+16081del	ENSP00000506739.1:n.2185+16080_2185+16081del
ENST00000683270.1:c.6162_6163del	ENSP00000507624.1:p.Ser2055Ter
ENST00000683367.1:c.2177-8221_2177-8220del	ENSP00000507780.1:n.2177-8221_2177-8220del
ENST00000683489.1:c.2291+3880_2291+3881del	ENSP00000508403.1:n.2291+3880_2291+3881del
ENST00000683680.1:c.2318+3880_2318+3881del	ENSP00000507223.1:n.2318+3880_2318+3881del
ENST00000684163.1:c.2204-8221_2204-8220del	ENSP00000508262.1:n.2204-8221_2204-8220del
ENST00000684196.1:n.4543-8221_4543-8220del
ENST00000684325.1:c.2186-16031_2186-16030del	ENSP00000508121.1:n.2186-16031_2186-16030del
ENST00000684385.1:c.2221-8221_2221-8220del	ENSP00000507855.1:n.2221-8221_2221-8220del
ENST00000684497.1:c.2186-15061_2186-15060del	ENSP00000507057.1:n.2186-15061_2186-15060del
ENST00000382292.9:c.6171_6172del MANE Select	ENSP00000371729.3:p.Ser2058Ter
ENST00000423156.2:c.2186-8221_2186-8220del	ENSP00000390925.2:n.2186-8221_2186-8220del
ENST00000455470.6:c.2431+3740_2431+3741del	ENSP00000406565.2:n.2431+3740_2431+3741del
ENST00000382292.7:c.6171_6172del	ENSP00000371729.3:p.Ser2058Ter
ENST00000382298.7:c.6171_6172del	ENSP00000371735.3:p.Ser2058Ter
ENST00000402364.1:c.3921_3922del	ENSP00000385844.1:p.Ser1308Ter
ENST00000423156.1:c.1058-8221_1058-8220del	ENSP00000390925.1:n.1058-8221_1058-8220del
ENST00000455470.5:c.2129+3740_2129+3741del
NM_001278055.1:c.5730_5731del	NP_001264984.1:p.Ser1911Ter
NM_014363.5:c.6171_6172del	NP_055178.3:p.Ser2058Ter
XM_005266338.1:c.6198_6199del	XP_005266395.1:p.Ser2067Ter
XM_011535038.1:c.6222_6223del	XP_011533340.1:p.Ser2075Ter
XM_011535039.1:c.6189_6190del	XP_011533341.1:p.Ser2064Ter
XM_005266338.2:c.6198_6199del	XP_005266395.1:p.Ser2067Ter
XM_011535039.2:c.6189_6190del	XP_011533341.1:p.Ser2064Ter
XM_017020539.1:c.6162_6163del	XP_016876028.1:p.Ser2055Ter
XM_024449337.1:c.6198_6199del	XP_024305105.1:p.Ser2067Ter
NM_014363.6:c.6171_6172del MANE Select	NP_055178.3:p.Ser2058Ter
NM_001278055.2:c.5730_5731del	NP_001264984.1:p.Ser1911Ter