Canonical Allele Identifier: CA2798500215

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333879_23333883del , CM000675.2:g.23333879_23333883del	GRCh38
NC_000013.10:g.23908018_23908022del , CM000675.1:g.23908018_23908022del	GRCh37
NC_000013.9:g.22806018_22806022del	NCBI36
NG_012342.1:g.104820_104824del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19902_2185+19906del	ENSP00000508399.1:n.2185+19902_2185+19906del
ENST00000682944.1:c.10020_10024del	ENSP00000507173.1:p.Gln3340HisfsTer?
ENST00000683210.1:c.2185+19902_2185+19906del	ENSP00000506739.1:n.2185+19902_2185+19906del
ENST00000683270.1:c.6445+3539_6445+3543del	ENSP00000507624.1:n.6445+3539_6445+3543del
ENST00000683367.1:c.2177-4399_2177-4395del	ENSP00000507780.1:n.2177-4399_2177-4395del
ENST00000683489.1:c.2292-3931_2292-3927del	ENSP00000508403.1:n.2292-3931_2292-3927del
ENST00000683680.1:c.2319-3931_2319-3927del	ENSP00000507223.1:n.2319-3931_2319-3927del
ENST00000684163.1:c.2204-4399_2204-4395del	ENSP00000508262.1:n.2204-4399_2204-4395del
ENST00000684196.1:n.4543-4399_4543-4395del
ENST00000684325.1:c.2186-12209_2186-12205del	ENSP00000508121.1:n.2186-12209_2186-12205del
ENST00000684385.1:c.2221-4399_2221-4395del	ENSP00000507855.1:n.2221-4399_2221-4395del
ENST00000684497.1:c.2186-11239_2186-11235del	ENSP00000507057.1:n.2186-11239_2186-11235del
ENST00000382292.9:c.9993_9997del MANE Select	ENSP00000371729.3:p.Gln3331HisfsTer?
ENST00000423156.2:c.2186-4399_2186-4395del	ENSP00000390925.2:n.2186-4399_2186-4395del
ENST00000455470.6:c.2432-4399_2432-4395del	ENSP00000406565.2:n.2432-4399_2432-4395del
ENST00000382292.7:c.9993_9997del	ENSP00000371729.3:p.Gln3331HisfsTer?
ENST00000382298.7:c.9993_9997del	ENSP00000371735.3:p.Gln3331HisfsTer?
ENST00000402364.1:c.7743_7747del	ENSP00000385844.1:p.Gln2581HisfsTer?
ENST00000423156.1:c.1058-4399_1058-4395del	ENSP00000390925.1:n.1058-4399_1058-4395del
ENST00000455470.5:c.2130-4399_2130-4395del
NM_001278055.1:c.9552_9556del	NP_001264984.1:p.Gln3184HisfsTer?
NM_014363.5:c.9993_9997del	NP_055178.3:p.Gln3331HisfsTer?
XM_005266338.1:c.10020_10024del	XP_005266395.1:p.Gln3340HisfsTer?
XM_011535038.1:c.10044_10048del	XP_011533340.1:p.Gln3348HisfsTer?
XM_011535039.1:c.10011_10015del	XP_011533341.1:p.Gln3337HisfsTer?
XM_005266338.2:c.10020_10024del	XP_005266395.1:p.Gln3340HisfsTer?
XM_011535039.2:c.10011_10015del	XP_011533341.1:p.Gln3337HisfsTer?
XM_017020539.1:c.9984_9988del	XP_016876028.1:p.Gln3328HisfsTer?
XM_024449337.1:c.10020_10024del	XP_024305105.1:p.Gln3340HisfsTer?
NM_014363.6:c.9993_9997del MANE Select	NP_055178.3:p.Gln3331HisfsTer?
NM_001278055.2:c.9552_9556del	NP_001264984.1:p.Gln3184HisfsTer?