Canonical Allele Identifier: CA658823512

Gene: SACS

Linked Data

• ClinVar Variation Id: 551744
• ClinVar RCV Id: RCV000666881
• dbSNP Id: rs1555251573
• gnomAD v4: 13-23336794-AAAG-A
• MyVariant Identifiers: chr13:g.23336795_23336797del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336797_23336799del , CM000675.2:g.23336797_23336799del	GRCh38
NC_000013.10:g.23910936_23910938del , CM000675.1:g.23910936_23910938del	GRCh37
NC_000013.9:g.22808936_22808938del	NCBI36
NG_012342.1:g.101906_101908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16988_2185+16990del	ENSP00000508399.1:n.2185+16988_2185+16990del
ENST00000682944.1:c.7106_7108del	ENSP00000507173.1:p.Ser2369del
ENST00000683210.1:c.2185+16988_2185+16990del	ENSP00000506739.1:n.2185+16988_2185+16990del
ENST00000683270.1:c.6445+625_6445+627del	ENSP00000507624.1:n.6445+625_6445+627del
ENST00000683367.1:c.2177-7313_2177-7311del	ENSP00000507780.1:n.2177-7313_2177-7311del
ENST00000683489.1:c.2291+4788_2291+4790del	ENSP00000508403.1:n.2291+4788_2291+4790del
ENST00000683680.1:c.2318+4788_2318+4790del	ENSP00000507223.1:n.2318+4788_2318+4790del
ENST00000684163.1:c.2204-7313_2204-7311del	ENSP00000508262.1:n.2204-7313_2204-7311del
ENST00000684196.1:n.4543-7313_4543-7311del
ENST00000684325.1:c.2186-15123_2186-15121del	ENSP00000508121.1:n.2186-15123_2186-15121del
ENST00000684385.1:c.2221-7313_2221-7311del	ENSP00000507855.1:n.2221-7313_2221-7311del
ENST00000684497.1:c.2186-14153_2186-14151del	ENSP00000507057.1:n.2186-14153_2186-14151del
ENST00000382292.9:c.7079_7081del MANE Select	ENSP00000371729.3:p.Ser2360del
ENST00000423156.2:c.2186-7313_2186-7311del	ENSP00000390925.2:n.2186-7313_2186-7311del
ENST00000455470.6:c.2431+4648_2431+4650del	ENSP00000406565.2:n.2431+4648_2431+4650del
ENST00000382292.7:c.7079_7081del	ENSP00000371729.3:p.Ser2360del
ENST00000382298.7:c.7079_7081del	ENSP00000371735.3:p.Ser2360del
ENST00000402364.1:c.4829_4831del	ENSP00000385844.1:p.Ser1610del
ENST00000423156.1:c.1058-7313_1058-7311del	ENSP00000390925.1:n.1058-7313_1058-7311del
ENST00000455470.5:c.2129+4648_2129+4650del
NM_001278055.1:c.6638_6640del	NP_001264984.1:p.Ser2213del
NM_014363.5:c.7079_7081del	NP_055178.3:p.Ser2360del
XM_005266338.1:c.7106_7108del	XP_005266395.1:p.Ser2369del
XM_011535038.1:c.7130_7132del	XP_011533340.1:p.Ser2377del
XM_011535039.1:c.7097_7099del	XP_011533341.1:p.Ser2366del
XM_005266338.2:c.7106_7108del	XP_005266395.1:p.Ser2369del
XM_011535039.2:c.7097_7099del	XP_011533341.1:p.Ser2366del
XM_017020539.1:c.7070_7072del	XP_016876028.1:p.Ser2357del
XM_024449337.1:c.7106_7108del	XP_024305105.1:p.Ser2369del
NM_014363.6:c.7079_7081del MANE Select	NP_055178.3:p.Ser2360del
NM_001278055.2:c.6638_6640del	NP_001264984.1:p.Ser2213del