Canonical Allele Identifier: CA2078620969
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23334311_23334315delinsTAAAC , CM000675.2:g.23334311_23334315delinsTAAAC GRCh38
NC_000013.10:g.23908450_23908454delinsTAAAC , CM000675.1:g.23908450_23908454delinsTAAAC GRCh37
NC_000013.9:g.22806450_22806454delinsTAAAC NCBI36
NG_012342.1:g.104388_104392delinsGTTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19470_2185+19474delinsGTTTA ENSP00000508399.1:n.2185+19470_2185+19474delinsGTTTA
ENST00000682944.1:c.9588_9592delinsGTTTA ENSP00000507173.1:p.Leu3196=
ENST00000683210.1:c.2185+19470_2185+19474delinsGTTTA ENSP00000506739.1:n.2185+19470_2185+19474delinsGTTTA
ENST00000683270.1:c.6445+3107_6445+3111delinsGTTTA ENSP00000507624.1:n.6445+3107_6445+3111delinsGTTTA
ENST00000683367.1:c.2177-4831_2177-4827delinsGTTTA ENSP00000507780.1:n.2177-4831_2177-4827delinsGTTTA
ENST00000683489.1:c.2292-4363_2292-4359delinsGTTTA ENSP00000508403.1:n.2292-4363_2292-4359delinsGTTTA
ENST00000683680.1:c.2319-4363_2319-4359delinsGTTTA ENSP00000507223.1:n.2319-4363_2319-4359delinsGTTTA
ENST00000684163.1:c.2204-4831_2204-4827delinsGTTTA ENSP00000508262.1:n.2204-4831_2204-4827delinsGTTTA
ENST00000684196.1:n.4543-4831_4543-4827delinsGTTTA
ENST00000684325.1:c.2186-12641_2186-12637delinsGTTTA ENSP00000508121.1:n.2186-12641_2186-12637delinsGTTTA
ENST00000684385.1:c.2221-4831_2221-4827delinsGTTTA ENSP00000507855.1:n.2221-4831_2221-4827delinsGTTTA
ENST00000684497.1:c.2186-11671_2186-11667delinsGTTTA ENSP00000507057.1:n.2186-11671_2186-11667delinsGTTTA
ENST00000382292.9:c.9561_9565delinsGTTTA MANE Select ENSP00000371729.3:p.Leu3187=
ENST00000423156.2:c.2186-4831_2186-4827delinsGTTTA ENSP00000390925.2:n.2186-4831_2186-4827delinsGTTTA
ENST00000455470.6:c.2432-4831_2432-4827delinsGTTTA ENSP00000406565.2:n.2432-4831_2432-4827delinsGTTTA
ENST00000382292.7:c.9561_9565delinsGTTTA ENSP00000371729.3:p.Leu3187=
ENST00000382298.7:c.9561_9565delinsGTTTA ENSP00000371735.3:p.Leu3187=
ENST00000402364.1:c.7311_7315delinsGTTTA ENSP00000385844.1:p.Leu2437=
ENST00000423156.1:c.1058-4831_1058-4827delinsGTTTA ENSP00000390925.1:n.1058-4831_1058-4827delinsGTTTA
ENST00000455470.5:c.2130-4831_2130-4827delinsGTTTA
NM_001278055.1:c.9120_9124delinsGTTTA NP_001264984.1:p.Leu3040=
NM_014363.5:c.9561_9565delinsGTTTA NP_055178.3:p.Leu3187=
XM_005266338.1:c.9588_9592delinsGTTTA XP_005266395.1:p.Leu3196=
XM_011535038.1:c.9612_9616delinsGTTTA XP_011533340.1:p.Leu3204=
XM_011535039.1:c.9579_9583delinsGTTTA XP_011533341.1:p.Leu3193=
XM_005266338.2:c.9588_9592delinsGTTTA XP_005266395.1:p.Leu3196=
XM_011535039.2:c.9579_9583delinsGTTTA XP_011533341.1:p.Leu3193=
XM_017020539.1:c.9552_9556delinsGTTTA XP_016876028.1:p.Leu3184=
XM_024449337.1:c.9588_9592delinsGTTTA XP_024305105.1:p.Leu3196=
NM_014363.6:c.9561_9565delinsGTTTA MANE Select NP_055178.3:p.Leu3187=
NM_001278055.2:c.9120_9124delinsGTTTA NP_001264984.1:p.Leu3040=