Canonical Allele Identifier: CA2078628130

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330591_23330592delinsAG , CM000675.2:g.23330591_23330592delinsAG	GRCh38
NC_000013.10:g.23904730_23904731delinsAG , CM000675.1:g.23904730_23904731delinsAG	GRCh37
NC_000013.9:g.22802730_22802731delinsAG	NCBI36
NG_012342.1:g.108111_108112delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18477_2186-18476delinsCT	ENSP00000508399.1:n.2186-18477_2186-18476delinsCT
ENST00000682944.1:c.13311_13312delinsCT	ENSP00000507173.1:p.Tyr4437=
ENST00000683210.1:c.2185+23193_2185+23194delinsCT	ENSP00000506739.1:n.2185+23193_2185+23194delinsCT
ENST00000683270.1:c.6446-1108_6446-1107delinsCT	ENSP00000507624.1:n.6446-1108_6446-1107delinsCT
ENST00000683367.1:c.2177-1108_2177-1107delinsCT	ENSP00000507780.1:n.2177-1108_2177-1107delinsCT
ENST00000683489.1:c.2292-640_2292-639delinsCT	ENSP00000508403.1:n.2292-640_2292-639delinsCT
ENST00000683680.1:c.2319-640_2319-639delinsCT	ENSP00000507223.1:n.2319-640_2319-639delinsCT
ENST00000684163.1:c.2204-1108_2204-1107delinsCT	ENSP00000508262.1:n.2204-1108_2204-1107delinsCT
ENST00000684196.1:n.4543-1108_4543-1107delinsCT
ENST00000684325.1:c.2186-8918_2186-8917delinsCT	ENSP00000508121.1:n.2186-8918_2186-8917delinsCT
ENST00000684385.1:c.2221-1108_2221-1107delinsCT	ENSP00000507855.1:n.2221-1108_2221-1107delinsCT
ENST00000684497.1:c.2186-7948_2186-7947delinsCT	ENSP00000507057.1:n.2186-7948_2186-7947delinsCT
ENST00000382292.9:c.13284_13285delinsCT MANE Select	ENSP00000371729.3:p.Tyr4428=
ENST00000423156.2:c.2186-1108_2186-1107delinsCT	ENSP00000390925.2:n.2186-1108_2186-1107delinsCT
ENST00000455470.6:c.2432-1108_2432-1107delinsCT	ENSP00000406565.2:n.2432-1108_2432-1107delinsCT
ENST00000382292.7:c.13284_13285delinsCT	ENSP00000371729.3:p.Tyr4428=
ENST00000382298.7:c.13284_13285delinsCT	ENSP00000371735.3:p.Tyr4428=
ENST00000402364.1:c.11034_11035delinsCT	ENSP00000385844.1:p.Tyr3678=
ENST00000423156.1:c.1058-1108_1058-1107delinsCT	ENSP00000390925.1:n.1058-1108_1058-1107delinsCT
ENST00000455470.5:c.2130-1108_2130-1107delinsCT
NM_001278055.1:c.12843_12844delinsCT	NP_001264984.1:p.Tyr4281=
NM_014363.5:c.13284_13285delinsCT	NP_055178.3:p.Tyr4428=
XM_005266338.1:c.13311_13312delinsCT	XP_005266395.1:p.Tyr4437=
XM_011535038.1:c.13335_13336delinsCT	XP_011533340.1:p.Tyr4445=
XM_011535039.1:c.13302_13303delinsCT	XP_011533341.1:p.Tyr4434=
XM_005266338.2:c.13311_13312delinsCT	XP_005266395.1:p.Tyr4437=
XM_011535039.2:c.13302_13303delinsCT	XP_011533341.1:p.Tyr4434=
XM_017020539.1:c.13275_13276delinsCT	XP_016876028.1:p.Tyr4425=
XM_024449337.1:c.13311_13312delinsCT	XP_024305105.1:p.Tyr4437=
NM_014363.6:c.13284_13285delinsCT MANE Select	NP_055178.3:p.Tyr4428=
NM_001278055.2:c.12843_12844delinsCT	NP_001264984.1:p.Tyr4281=