Canonical Allele Identifier: CA912980169

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23910933_23910936del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336797_23336800del , CM000675.2:g.23336797_23336800del	GRCh38
NC_000013.10:g.23910936_23910939del , CM000675.1:g.23910936_23910939del	GRCh37
NC_000013.9:g.22808936_22808939del	NCBI36
NG_012342.1:g.101906_101909del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16988_2185+16991del	ENSP00000508399.1:n.2185+16988_2185+16991del
ENST00000682944.1:c.7106_7109del	ENSP00000507173.1:p.Ser2369PhefsTer3
ENST00000683210.1:c.2185+16988_2185+16991del	ENSP00000506739.1:n.2185+16988_2185+16991del
ENST00000683270.1:c.6445+625_6445+628del	ENSP00000507624.1:n.6445+625_6445+628del
ENST00000683367.1:c.2177-7313_2177-7310del	ENSP00000507780.1:n.2177-7313_2177-7310del
ENST00000683489.1:c.2291+4788_2291+4791del	ENSP00000508403.1:n.2291+4788_2291+4791del
ENST00000683680.1:c.2318+4788_2318+4791del	ENSP00000507223.1:n.2318+4788_2318+4791del
ENST00000684163.1:c.2204-7313_2204-7310del	ENSP00000508262.1:n.2204-7313_2204-7310del
ENST00000684196.1:n.4543-7313_4543-7310del
ENST00000684325.1:c.2186-15123_2186-15120del	ENSP00000508121.1:n.2186-15123_2186-15120del
ENST00000684385.1:c.2221-7313_2221-7310del	ENSP00000507855.1:n.2221-7313_2221-7310del
ENST00000684497.1:c.2186-14153_2186-14150del	ENSP00000507057.1:n.2186-14153_2186-14150del
ENST00000382292.9:c.7079_7082del MANE Select	ENSP00000371729.3:p.Ser2360PhefsTer3
ENST00000423156.2:c.2186-7313_2186-7310del	ENSP00000390925.2:n.2186-7313_2186-7310del
ENST00000455470.6:c.2431+4648_2431+4651del	ENSP00000406565.2:n.2431+4648_2431+4651del
ENST00000382292.7:c.7079_7082del	ENSP00000371729.3:p.Ser2360PhefsTer3
ENST00000382298.7:c.7079_7082del	ENSP00000371735.3:p.Ser2360PhefsTer3
ENST00000402364.1:c.4829_4832del	ENSP00000385844.1:p.Ser1610PhefsTer3
ENST00000423156.1:c.1058-7313_1058-7310del	ENSP00000390925.1:n.1058-7313_1058-7310del
ENST00000455470.5:c.2129+4648_2129+4651del
NM_001278055.1:c.6638_6641del	NP_001264984.1:p.Ser2213PhefsTer3
NM_014363.5:c.7079_7082del	NP_055178.3:p.Ser2360PhefsTer3
XM_005266338.1:c.7106_7109del	XP_005266395.1:p.Ser2369PhefsTer3
XM_011535038.1:c.7130_7133del	XP_011533340.1:p.Ser2377PhefsTer3
XM_011535039.1:c.7097_7100del	XP_011533341.1:p.Ser2366PhefsTer3
XM_005266338.2:c.7106_7109del	XP_005266395.1:p.Ser2369PhefsTer3
XM_011535039.2:c.7097_7100del	XP_011533341.1:p.Ser2366PhefsTer3
XM_017020539.1:c.7070_7073del	XP_016876028.1:p.Ser2357PhefsTer3
XM_024449337.1:c.7106_7109del	XP_024305105.1:p.Ser2369PhefsTer3
NM_014363.6:c.7079_7082del MANE Select	NP_055178.3:p.Ser2360PhefsTer3
NM_001278055.2:c.6638_6641del	NP_001264984.1:p.Ser2213PhefsTer3