Canonical Allele Identifier: CA2078627701

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337519_23337523delinsTCGTC , CM000675.2:g.23337519_23337523delinsTCGTC	GRCh38
NC_000013.10:g.23911658_23911662delinsTCGTC , CM000675.1:g.23911658_23911662delinsTCGTC	GRCh37
NC_000013.9:g.22809658_22809662delinsTCGTC	NCBI36
NG_012342.1:g.101180_101184delinsGACGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16262_2185+16266delinsGACGA	ENSP00000508399.1:n.2185+16262_2185+16266delinsGACGA
ENST00000682944.1:c.6380_6384delinsGACGA	ENSP00000507173.1:p.Gly2127=
ENST00000683210.1:c.2185+16262_2185+16266delinsGACGA	ENSP00000506739.1:n.2185+16262_2185+16266delinsGACGA
ENST00000683270.1:c.6344_6348delinsGACGA	ENSP00000507624.1:p.Gly2115=
ENST00000683367.1:c.2177-8039_2177-8035delinsGACGA	ENSP00000507780.1:n.2177-8039_2177-8035delinsGACGA
ENST00000683489.1:c.2291+4062_2291+4066delinsGACGA	ENSP00000508403.1:n.2291+4062_2291+4066delinsGACGA
ENST00000683680.1:c.2318+4062_2318+4066delinsGACGA	ENSP00000507223.1:n.2318+4062_2318+4066delinsGACGA
ENST00000684163.1:c.2204-8039_2204-8035delinsGACGA	ENSP00000508262.1:n.2204-8039_2204-8035delinsGACGA
ENST00000684196.1:n.4543-8039_4543-8035delinsGACGA
ENST00000684325.1:c.2186-15849_2186-15845delinsGACGA	ENSP00000508121.1:n.2186-15849_2186-15845delinsGACGA
ENST00000684385.1:c.2221-8039_2221-8035delinsGACGA	ENSP00000507855.1:n.2221-8039_2221-8035delinsGACGA
ENST00000684497.1:c.2186-14879_2186-14875delinsGACGA	ENSP00000507057.1:n.2186-14879_2186-14875delinsGACGA
ENST00000382292.9:c.6353_6357delinsGACGA MANE Select	ENSP00000371729.3:p.Gly2118=
ENST00000423156.2:c.2186-8039_2186-8035delinsGACGA	ENSP00000390925.2:n.2186-8039_2186-8035delinsGACGA
ENST00000455470.6:c.2431+3922_2431+3926delinsGACGA	ENSP00000406565.2:n.2431+3922_2431+3926delinsGACGA
ENST00000382292.7:c.6353_6357delinsGACGA	ENSP00000371729.3:p.Gly2118=
ENST00000382298.7:c.6353_6357delinsGACGA	ENSP00000371735.3:p.Gly2118=
ENST00000402364.1:c.4103_4107delinsGACGA	ENSP00000385844.1:p.Gly1368=
ENST00000423156.1:c.1058-8039_1058-8035delinsGACGA	ENSP00000390925.1:n.1058-8039_1058-8035delinsGACGA
ENST00000455470.5:c.2129+3922_2129+3926delinsGACGA
NM_001278055.1:c.5912_5916delinsGACGA	NP_001264984.1:p.Gly1971=
NM_014363.5:c.6353_6357delinsGACGA	NP_055178.3:p.Gly2118=
XM_005266338.1:c.6380_6384delinsGACGA	XP_005266395.1:p.Gly2127=
XM_011535038.1:c.6404_6408delinsGACGA	XP_011533340.1:p.Gly2135=
XM_011535039.1:c.6371_6375delinsGACGA	XP_011533341.1:p.Gly2124=
XM_005266338.2:c.6380_6384delinsGACGA	XP_005266395.1:p.Gly2127=
XM_011535039.2:c.6371_6375delinsGACGA	XP_011533341.1:p.Gly2124=
XM_017020539.1:c.6344_6348delinsGACGA	XP_016876028.1:p.Gly2115=
XM_024449337.1:c.6380_6384delinsGACGA	XP_024305105.1:p.Gly2127=
NM_014363.6:c.6353_6357delinsGACGA MANE Select	NP_055178.3:p.Gly2118=
NM_001278055.2:c.5912_5916delinsGACGA	NP_001264984.1:p.Gly1971=