Canonical Allele Identifier: CA2695199221

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678542
• ClinVar RCV Id: RCV003466352 ; RCV003588924

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337828_23337832del , CM000675.2:g.23337828_23337832del	GRCh38
NC_000013.10:g.23911967_23911971del , CM000675.1:g.23911967_23911971del	GRCh37
NC_000013.9:g.22809967_22809971del	NCBI36
NG_012342.1:g.100872_100876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15954_2185+15958del	ENSP00000508399.1:n.2185+15954_2185+15958del
ENST00000682944.1:c.6072_6076del	ENSP00000507173.1:p.Tyr2024Ter
ENST00000683210.1:c.2185+15954_2185+15958del	ENSP00000506739.1:n.2185+15954_2185+15958del
ENST00000683270.1:c.6036_6040del	ENSP00000507624.1:p.Tyr2012Ter
ENST00000683367.1:c.2177-8347_2177-8343del	ENSP00000507780.1:n.2177-8347_2177-8343del
ENST00000683489.1:c.2291+3754_2291+3758del	ENSP00000508403.1:n.2291+3754_2291+3758del
ENST00000683680.1:c.2318+3754_2318+3758del	ENSP00000507223.1:n.2318+3754_2318+3758del
ENST00000684163.1:c.2204-8347_2204-8343del	ENSP00000508262.1:n.2204-8347_2204-8343del
ENST00000684196.1:n.4543-8347_4543-8343del
ENST00000684325.1:c.2185+15954_2185+15958del	ENSP00000508121.1:n.2185+15954_2185+15958del
ENST00000684385.1:c.2221-8347_2221-8343del	ENSP00000507855.1:n.2221-8347_2221-8343del
ENST00000684497.1:c.2186-15187_2186-15183del	ENSP00000507057.1:n.2186-15187_2186-15183del
ENST00000382292.9:c.6045_6049del MANE Select	ENSP00000371729.3:p.Tyr2015Ter
ENST00000423156.2:c.2186-8347_2186-8343del	ENSP00000390925.2:n.2186-8347_2186-8343del
ENST00000455470.6:c.2431+3614_2431+3618del	ENSP00000406565.2:n.2431+3614_2431+3618del
ENST00000382292.7:c.6045_6049del	ENSP00000371729.3:p.Tyr2015Ter
ENST00000382298.7:c.6045_6049del	ENSP00000371735.3:p.Tyr2015Ter
ENST00000402364.1:c.3795_3799del	ENSP00000385844.1:p.Tyr1265Ter
ENST00000423156.1:c.1058-8347_1058-8343del	ENSP00000390925.1:n.1058-8347_1058-8343del
ENST00000455470.5:c.2129+3614_2129+3618del
NM_001278055.1:c.5604_5608del	NP_001264984.1:p.Tyr1868Ter
NM_014363.5:c.6045_6049del	NP_055178.3:p.Tyr2015Ter
XM_005266338.1:c.6072_6076del	XP_005266395.1:p.Tyr2024Ter
XM_011535038.1:c.6096_6100del	XP_011533340.1:p.Tyr2032Ter
XM_011535039.1:c.6063_6067del	XP_011533341.1:p.Tyr2021Ter
XM_005266338.2:c.6072_6076del	XP_005266395.1:p.Tyr2024Ter
XM_011535039.2:c.6063_6067del	XP_011533341.1:p.Tyr2021Ter
XM_017020539.1:c.6036_6040del	XP_016876028.1:p.Tyr2012Ter
XM_024449337.1:c.6072_6076del	XP_024305105.1:p.Tyr2024Ter
NM_014363.6:c.6045_6049del MANE Select	NP_055178.3:p.Tyr2015Ter
NM_001278055.2:c.5604_5608del	NP_001264984.1:p.Tyr1868Ter