Canonical Allele Identifier: CA2622328981

Gene: SACS

Linked Data

• gnomAD v4: 13-23335486-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335486_23335487insC , CM000675.2:g.23335486_23335487insC	GRCh38
NC_000013.10:g.23909625_23909626insC , CM000675.1:g.23909625_23909626insC	GRCh37
NC_000013.9:g.22807625_22807626insC	NCBI36
NG_012342.1:g.103216_103217insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18298_2185+18299insG	ENSP00000508399.1:n.2185+18298_2185+18299insG
ENST00000682944.1:c.8416_8417insG	ENSP00000507173.1:p.Ile2806SerfsTer13
ENST00000683210.1:c.2185+18298_2185+18299insG	ENSP00000506739.1:n.2185+18298_2185+18299insG
ENST00000683270.1:c.6445+1935_6445+1936insG	ENSP00000507624.1:n.6445+1935_6445+1936insG
ENST00000683367.1:c.2177-6003_2177-6002insG	ENSP00000507780.1:n.2177-6003_2177-6002insG
ENST00000683489.1:c.2292-5535_2292-5534insG	ENSP00000508403.1:n.2292-5535_2292-5534insG
ENST00000683680.1:c.2319-5535_2319-5534insG	ENSP00000507223.1:n.2319-5535_2319-5534insG
ENST00000684163.1:c.2204-6003_2204-6002insG	ENSP00000508262.1:n.2204-6003_2204-6002insG
ENST00000684196.1:n.4543-6003_4543-6002insG
ENST00000684325.1:c.2186-13813_2186-13812insG	ENSP00000508121.1:n.2186-13813_2186-13812insG
ENST00000684385.1:c.2221-6003_2221-6002insG	ENSP00000507855.1:n.2221-6003_2221-6002insG
ENST00000684497.1:c.2186-12843_2186-12842insG	ENSP00000507057.1:n.2186-12843_2186-12842insG
ENST00000382292.9:c.8389_8390insG MANE Select	ENSP00000371729.3:p.Ile2797SerfsTer13
ENST00000423156.2:c.2186-6003_2186-6002insG	ENSP00000390925.2:n.2186-6003_2186-6002insG
ENST00000455470.6:c.2431+5958_2431+5959insG	ENSP00000406565.2:n.2431+5958_2431+5959insG
ENST00000382292.7:c.8389_8390insG	ENSP00000371729.3:p.Ile2797SerfsTer13
ENST00000382298.7:c.8389_8390insG	ENSP00000371735.3:p.Ile2797SerfsTer13
ENST00000402364.1:c.6139_6140insG	ENSP00000385844.1:p.Ile2047SerfsTer13
ENST00000423156.1:c.1058-6003_1058-6002insG	ENSP00000390925.1:n.1058-6003_1058-6002insG
ENST00000455470.5:c.2129+5958_2129+5959insG
NM_001278055.1:c.7948_7949insG	NP_001264984.1:p.Ile2650SerfsTer13
NM_014363.5:c.8389_8390insG	NP_055178.3:p.Ile2797SerfsTer13
XM_005266338.1:c.8416_8417insG	XP_005266395.1:p.Ile2806SerfsTer13
XM_011535038.1:c.8440_8441insG	XP_011533340.1:p.Ile2814SerfsTer13
XM_011535039.1:c.8407_8408insG	XP_011533341.1:p.Ile2803SerfsTer13
XM_005266338.2:c.8416_8417insG	XP_005266395.1:p.Ile2806SerfsTer13
XM_011535039.2:c.8407_8408insG	XP_011533341.1:p.Ile2803SerfsTer13
XM_017020539.1:c.8380_8381insG	XP_016876028.1:p.Ile2794SerfsTer13
XM_024449337.1:c.8416_8417insG	XP_024305105.1:p.Ile2806SerfsTer13
NM_014363.6:c.8389_8390insG MANE Select	NP_055178.3:p.Ile2797SerfsTer13
NM_001278055.2:c.7948_7949insG	NP_001264984.1:p.Ile2650SerfsTer13