Canonical Allele Identifier: CA912980207

Gene: SACS

Linked Data

• MyVariant Identifiers: chr13:g.23908386_23908390del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334247_23334251del , CM000675.2:g.23334247_23334251del	GRCh38
NC_000013.10:g.23908386_23908390del , CM000675.1:g.23908386_23908390del	GRCh37
NC_000013.9:g.22806386_22806390del	NCBI36
NG_012342.1:g.104452_104456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19534_2185+19538del	ENSP00000508399.1:n.2185+19534_2185+19538...
ENST00000682944.1:c.9652_9656del	ENSP00000507173.1:p.Phe3218HisfsTer6
ENST00000683210.1:c.2185+19534_2185+19538del	ENSP00000506739.1:n.2185+19534_2185+19538...
ENST00000683270.1:c.6445+3171_6445+3175del	ENSP00000507624.1:n.6445+3171_6445+3175de...
ENST00000683367.1:c.2177-4767_2177-4763del	ENSP00000507780.1:n.2177-4767_2177-4763de...
ENST00000683489.1:c.2292-4299_2292-4295del	ENSP00000508403.1:n.2292-4299_2292-4295de...
ENST00000683680.1:c.2319-4299_2319-4295del	ENSP00000507223.1:n.2319-4299_2319-4295de...
ENST00000684163.1:c.2204-4767_2204-4763del	ENSP00000508262.1:n.2204-4767_2204-4763de...
ENST00000684196.1:n.4543-4767_4543-4763del
ENST00000684325.1:c.2186-12577_2186-12573del	ENSP00000508121.1:n.2186-12577_2186-12573...
ENST00000684385.1:c.2221-4767_2221-4763del	ENSP00000507855.1:n.2221-4767_2221-4763de...
ENST00000684497.1:c.2186-11607_2186-11603del	ENSP00000507057.1:n.2186-11607_2186-11603...
ENST00000382292.9:c.9625_9629del MANE Select	ENSP00000371729.3:p.Phe3209HisfsTer6
ENST00000423156.2:c.2186-4767_2186-4763del	ENSP00000390925.2:n.2186-4767_2186-4763de...
ENST00000455470.6:c.2432-4767_2432-4763del	ENSP00000406565.2:n.2432-4767_2432-4763de...
ENST00000382292.7:c.9625_9629del	ENSP00000371729.3:p.Phe3209HisfsTer6
ENST00000382298.7:c.9625_9629del	ENSP00000371735.3:p.Phe3209HisfsTer6
ENST00000402364.1:c.7375_7379del	ENSP00000385844.1:p.Phe2459HisfsTer6
ENST00000423156.1:c.1058-4767_1058-4763del	ENSP00000390925.1:n.1058-4767_1058-4763de...
ENST00000455470.5:c.2130-4767_2130-4763del
NM_001278055.1:c.9184_9188del	NP_001264984.1:p.Phe3062HisfsTer6
NM_014363.5:c.9625_9629del	NP_055178.3:p.Phe3209HisfsTer6
XM_005266338.1:c.9652_9656del	XP_005266395.1:p.Phe3218HisfsTer6
XM_011535038.1:c.9676_9680del	XP_011533340.1:p.Phe3226HisfsTer6
XM_011535039.1:c.9643_9647del	XP_011533341.1:p.Phe3215HisfsTer6
XM_005266338.2:c.9652_9656del	XP_005266395.1:p.Phe3218HisfsTer6
XM_011535039.2:c.9643_9647del	XP_011533341.1:p.Phe3215HisfsTer6
XM_017020539.1:c.9616_9620del	XP_016876028.1:p.Phe3206HisfsTer6
XM_024449337.1:c.9652_9656del	XP_024305105.1:p.Phe3218HisfsTer6
NM_014363.6:c.9625_9629del MANE Select	NP_055178.3:p.Phe3209HisfsTer6
NM_001278055.2:c.9184_9188del	NP_001264984.1:p.Phe3062HisfsTer6