Canonical Allele Identifier: CA2994520966
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23333866_23333867insCAG , CM000675.2:g.23333866_23333867insCAG GRCh38
NC_000013.10:g.23908005_23908006insCAG , CM000675.1:g.23908005_23908006insCAG GRCh37
NC_000013.9:g.22806005_22806006insCAG NCBI36
NG_012342.1:g.104836_104837insCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2185+19918_2185+19919insCTG ENSP00000508399.1:n.2185+19918_2185+19919insCTG
ENST00000682944.1:c.10036_10037insCTG ENSP00000507173.1:p.Ile3346delinsThrVal
ENST00000683210.1:c.2185+19918_2185+19919insCTG ENSP00000506739.1:n.2185+19918_2185+19919insCTG
ENST00000683270.1:c.6445+3555_6445+3556insCTG ENSP00000507624.1:n.6445+3555_6445+3556insCTG
ENST00000683367.1:c.2177-4383_2177-4382insCTG ENSP00000507780.1:n.2177-4383_2177-4382insCTG
ENST00000683489.1:c.2292-3915_2292-3914insCTG ENSP00000508403.1:n.2292-3915_2292-3914insCTG
ENST00000683680.1:c.2319-3915_2319-3914insCTG ENSP00000507223.1:n.2319-3915_2319-3914insCTG
ENST00000684163.1:c.2204-4383_2204-4382insCTG ENSP00000508262.1:n.2204-4383_2204-4382insCTG
ENST00000684196.1:n.4543-4383_4543-4382insCTG
ENST00000684325.1:c.2186-12193_2186-12192insCTG ENSP00000508121.1:n.2186-12193_2186-12192insCTG
ENST00000684385.1:c.2221-4383_2221-4382insCTG ENSP00000507855.1:n.2221-4383_2221-4382insCTG
ENST00000684497.1:c.2186-11223_2186-11222insCTG ENSP00000507057.1:n.2186-11223_2186-11222insCTG
ENST00000382292.9:c.10009_10010insCTG MANE Select ENSP00000371729.3:p.Ile3337delinsThrVal
ENST00000423156.2:c.2186-4383_2186-4382insCTG ENSP00000390925.2:n.2186-4383_2186-4382insCTG
ENST00000455470.6:c.2432-4383_2432-4382insCTG ENSP00000406565.2:n.2432-4383_2432-4382insCTG
ENST00000382292.7:c.10009_10010insCTG ENSP00000371729.3:p.Ile3337delinsThrVal
ENST00000382298.7:c.10009_10010insCTG ENSP00000371735.3:p.Ile3337delinsThrVal
ENST00000402364.1:c.7759_7760insCTG ENSP00000385844.1:p.Ile2587delinsThrVal
ENST00000423156.1:c.1058-4383_1058-4382insCTG ENSP00000390925.1:n.1058-4383_1058-4382insCTG
ENST00000455470.5:c.2130-4383_2130-4382insCTG
NM_001278055.1:c.9568_9569insCTG NP_001264984.1:p.Ile3190delinsThrVal
NM_014363.5:c.10009_10010insCTG NP_055178.3:p.Ile3337delinsThrVal
XM_005266338.1:c.10036_10037insCTG XP_005266395.1:p.Ile3346delinsThrVal
XM_011535038.1:c.10060_10061insCTG XP_011533340.1:p.Ile3354delinsThrVal
XM_011535039.1:c.10027_10028insCTG XP_011533341.1:p.Ile3343delinsThrVal
XM_005266338.2:c.10036_10037insCTG XP_005266395.1:p.Ile3346delinsThrVal
XM_011535039.2:c.10027_10028insCTG XP_011533341.1:p.Ile3343delinsThrVal
XM_017020539.1:c.10000_10001insCTG XP_016876028.1:p.Ile3334delinsThrVal
XM_024449337.1:c.10036_10037insCTG XP_024305105.1:p.Ile3346delinsThrVal
NM_014363.6:c.10009_10010insCTG MANE Select NP_055178.3:p.Ile3337delinsThrVal
NM_001278055.2:c.9568_9569insCTG NP_001264984.1:p.Ile3190delinsThrVal