Canonical Allele Identifier: CA658823534

Gene: SACS

Linked Data

• ClinVar Variation Id: 559869
• ClinVar RCV Id: RCV003750818
• dbSNP Id: rs1555251822
• MyVariant Identifiers: chr13:g.23911674_23911677del (hg19) ; chr13:g.23337535_23337538del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337538_23337541del , CM000675.2:g.23337538_23337541del	GRCh38
NC_000013.10:g.23911677_23911680del , CM000675.1:g.23911677_23911680del	GRCh37
NC_000013.9:g.22809677_22809680del	NCBI36
NG_012342.1:g.101165_101168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+16247_2185+16250del	ENSP00000508399.1:n.2185+16247_2185+16250...
ENST00000682944.1:c.6365_6368del	ENSP00000507173.1:p.Leu2122SerfsTer?
ENST00000683210.1:c.2185+16247_2185+16250del	ENSP00000506739.1:n.2185+16247_2185+16250...
ENST00000683270.1:c.6329_6332del	ENSP00000507624.1:p.Leu2110SerfsTer?
ENST00000683367.1:c.2177-8054_2177-8051del	ENSP00000507780.1:n.2177-8054_2177-8051de...
ENST00000683489.1:c.2291+4047_2291+4050del	ENSP00000508403.1:n.2291+4047_2291+4050de...
ENST00000683680.1:c.2318+4047_2318+4050del	ENSP00000507223.1:n.2318+4047_2318+4050de...
ENST00000684163.1:c.2204-8054_2204-8051del	ENSP00000508262.1:n.2204-8054_2204-8051de...
ENST00000684196.1:n.4543-8054_4543-8051del
ENST00000684325.1:c.2186-15864_2186-15861del	ENSP00000508121.1:n.2186-15864_2186-15861...
ENST00000684385.1:c.2221-8054_2221-8051del	ENSP00000507855.1:n.2221-8054_2221-8051de...
ENST00000684497.1:c.2186-14894_2186-14891del	ENSP00000507057.1:n.2186-14894_2186-14891...
ENST00000382292.9:c.6338_6341del MANE Select	ENSP00000371729.3:p.Leu2113SerfsTer?
ENST00000423156.2:c.2186-8054_2186-8051del	ENSP00000390925.2:n.2186-8054_2186-8051de...
ENST00000455470.6:c.2431+3907_2431+3910del	ENSP00000406565.2:n.2431+3907_2431+3910de...
ENST00000382292.7:c.6338_6341del	ENSP00000371729.3:p.Leu2113SerfsTer?
ENST00000382298.7:c.6338_6341del	ENSP00000371735.3:p.Leu2113SerfsTer?
ENST00000402364.1:c.4088_4091del	ENSP00000385844.1:p.Leu1363SerfsTer?
ENST00000423156.1:c.1058-8054_1058-8051del	ENSP00000390925.1:n.1058-8054_1058-8051de...
ENST00000455470.5:c.2129+3907_2129+3910del
NM_001278055.1:c.5897_5900del	NP_001264984.1:p.Leu1966SerfsTer?
NM_014363.5:c.6338_6341del	NP_055178.3:p.Leu2113SerfsTer?
XM_005266338.1:c.6365_6368del	XP_005266395.1:p.Leu2122SerfsTer?
XM_011535038.1:c.6389_6392del	XP_011533340.1:p.Leu2130SerfsTer?
XM_011535039.1:c.6356_6359del	XP_011533341.1:p.Leu2119SerfsTer?
XM_005266338.2:c.6365_6368del	XP_005266395.1:p.Leu2122SerfsTer?
XM_011535039.2:c.6356_6359del	XP_011533341.1:p.Leu2119SerfsTer?
XM_017020539.1:c.6329_6332del	XP_016876028.1:p.Leu2110SerfsTer?
XM_024449337.1:c.6365_6368del	XP_024305105.1:p.Leu2122SerfsTer?
NM_014363.6:c.6338_6341del MANE Select	NP_055178.3:p.Leu2113SerfsTer?
NM_001278055.2:c.5897_5900del	NP_001264984.1:p.Leu1966SerfsTer?