Canonical Allele Identifier: CA954041083

Gene: SACS

Linked Data

• gnomAD v3: 13-23337689-G-GAAAAA
• gnomAD v4: 13-23337689-G-GAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337691_23337695dup , CM000675.2:g.23337691_23337695dup	GRCh38
NC_000013.10:g.23911830_23911834dup , CM000675.1:g.23911830_23911834dup	GRCh37
NC_000013.9:g.22809830_22809834dup	NCBI36
NG_012342.1:g.101009_101013dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16091_2185+16095dup	ENSP00000508399.1:n.2185+16091_2185+16095dup
ENST00000682944.1:c.6209_6213dup	ENSP00000507173.1:p.Pro2072PhefsTer16
ENST00000683210.1:c.2185+16091_2185+16095dup	ENSP00000506739.1:n.2185+16091_2185+16095dup
ENST00000683270.1:c.6173_6177dup	ENSP00000507624.1:p.Pro2060PhefsTer16
ENST00000683367.1:c.2177-8210_2177-8206dup	ENSP00000507780.1:n.2177-8210_2177-8206dup
ENST00000683489.1:c.2291+3891_2291+3895dup	ENSP00000508403.1:n.2291+3891_2291+3895dup
ENST00000683680.1:c.2318+3891_2318+3895dup	ENSP00000507223.1:n.2318+3891_2318+3895dup
ENST00000684163.1:c.2204-8210_2204-8206dup	ENSP00000508262.1:n.2204-8210_2204-8206dup
ENST00000684196.1:n.4543-8210_4543-8206dup
ENST00000684325.1:c.2186-16020_2186-16016dup	ENSP00000508121.1:n.2186-16020_2186-16016dup
ENST00000684385.1:c.2221-8210_2221-8206dup	ENSP00000507855.1:n.2221-8210_2221-8206dup
ENST00000684497.1:c.2186-15050_2186-15046dup	ENSP00000507057.1:n.2186-15050_2186-15046dup
ENST00000382292.9:c.6182_6186dup MANE Select	ENSP00000371729.3:p.Pro2063PhefsTer16
ENST00000423156.2:c.2186-8210_2186-8206dup	ENSP00000390925.2:n.2186-8210_2186-8206dup
ENST00000455470.6:c.2431+3751_2431+3755dup	ENSP00000406565.2:n.2431+3751_2431+3755dup
ENST00000382292.7:c.6182_6186dup	ENSP00000371729.3:p.Pro2063PhefsTer16
ENST00000382298.7:c.6182_6186dup	ENSP00000371735.3:p.Pro2063PhefsTer16
ENST00000402364.1:c.3932_3936dup	ENSP00000385844.1:p.Pro1313PhefsTer16
ENST00000423156.1:c.1058-8210_1058-8206dup	ENSP00000390925.1:n.1058-8210_1058-8206dup
ENST00000455470.5:c.2129+3751_2129+3755dup
NM_001278055.1:c.5741_5745dup	NP_001264984.1:p.Pro1916PhefsTer16
NM_014363.5:c.6182_6186dup	NP_055178.3:p.Pro2063PhefsTer16
XM_005266338.1:c.6209_6213dup	XP_005266395.1:p.Pro2072PhefsTer16
XM_011535038.1:c.6233_6237dup	XP_011533340.1:p.Pro2080PhefsTer16
XM_011535039.1:c.6200_6204dup	XP_011533341.1:p.Pro2069PhefsTer16
XM_005266338.2:c.6209_6213dup	XP_005266395.1:p.Pro2072PhefsTer16
XM_011535039.2:c.6200_6204dup	XP_011533341.1:p.Pro2069PhefsTer16
XM_017020539.1:c.6173_6177dup	XP_016876028.1:p.Pro2060PhefsTer16
XM_024449337.1:c.6209_6213dup	XP_024305105.1:p.Pro2072PhefsTer16
NM_014363.6:c.6182_6186dup MANE Select	NP_055178.3:p.Pro2063PhefsTer16
NM_001278055.2:c.5741_5745dup	NP_001264984.1:p.Pro1916PhefsTer16