Canonical Allele Identifier: CA954043434

Gene: SACS

Linked Data

• gnomAD v3: 13-23358384-C-CAG
• gnomAD v4: 13-23358384-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23358387_23358388dup , CM000675.2:g.23358387_23358388dup	GRCh38
NC_000013.10:g.23932526_23932527dup , CM000675.1:g.23932526_23932527dup	GRCh37
NC_000013.9:g.22830526_22830527dup	NCBI36
NG_012342.1:g.80317_80318dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.553_554dup	ENSP00000508399.1:p.Lys186Ter
ENST00000682944.1:c.553_554dup	ENSP00000507173.1:p.Lys186Ter
ENST00000683154.1:n.691_692dup
ENST00000683210.1:c.553_554dup	ENSP00000506739.1:p.Lys186Ter
ENST00000683270.1:c.544_545dup	ENSP00000507624.1:p.Lys183Ter
ENST00000683367.1:c.544_545dup	ENSP00000507780.1:p.Lys183Ter
ENST00000683489.1:c.553_554dup	ENSP00000508403.1:p.Lys186Ter
ENST00000683680.1:c.553_554dup	ENSP00000507223.1:p.Lys186Ter
ENST00000684163.1:c.544_545dup	ENSP00000508262.1:p.Lys183Ter
ENST00000684196.1:n.2910_2911dup
ENST00000684325.1:c.553_554dup	ENSP00000508121.1:p.Lys186Ter
ENST00000684385.1:c.553_554dup	ENSP00000507855.1:p.Lys186Ter
ENST00000684497.1:c.553_554dup	ENSP00000507057.1:p.Lys186Ter
ENST00000382292.9:c.553_554dup MANE Select	ENSP00000371729.3:p.Lys186Ter
ENST00000423156.2:c.553_554dup	ENSP00000390925.2:p.Lys186Ter
ENST00000455470.6:c.553_554dup	ENSP00000406565.2:p.Lys186Ter
ENST00000382292.7:c.553_554dup	ENSP00000371729.3:p.Lys186Ter
ENST00000382298.7:c.553_554dup	ENSP00000371735.3:p.Lys186Ter
ENST00000402364.1:c.-1698_-1697dup	ENSP00000385844.1:n.-1698_-1697dup
ENST00000455470.5:c.251_252dup
NM_001278055.1:c.112_113dup	NP_001264984.1:p.Lys39Ter
NM_014363.5:c.553_554dup	NP_055178.3:p.Lys186Ter
XM_005266338.1:c.553_554dup	XP_005266395.1:p.Lys186Ter
XM_011535038.1:c.577_578dup	XP_011533340.1:p.Lys194Ter
XM_011535039.1:c.544_545dup	XP_011533341.1:p.Lys183Ter
XM_005266338.2:c.553_554dup	XP_005266395.1:p.Lys186Ter
XM_011535039.2:c.544_545dup	XP_011533341.1:p.Lys183Ter
XM_017020539.1:c.544_545dup	XP_016876028.1:p.Lys183Ter
XM_024449337.1:c.553_554dup	XP_024305105.1:p.Lys186Ter
NM_014363.6:c.553_554dup MANE Select	NP_055178.3:p.Lys186Ter
NM_001278055.2:c.112_113dup	NP_001264984.1:p.Lys39Ter