Canonical Allele Identifier: CA2695217789

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334380_23334381del , CM000675.2:g.23334380_23334381del	GRCh38
NC_000013.10:g.23908519_23908520del , CM000675.1:g.23908519_23908520del	GRCh37
NC_000013.9:g.22806519_22806520del	NCBI36
NG_012342.1:g.104324_104325del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19406_2185+19407del	ENSP00000508399.1:n.2185+19406_2185+19407...
ENST00000682944.1:c.9524_9525del	ENSP00000507173.1:p.Phe3175Ter
ENST00000683210.1:c.2185+19406_2185+19407del	ENSP00000506739.1:n.2185+19406_2185+19407...
ENST00000683270.1:c.6445+3043_6445+3044del	ENSP00000507624.1:n.6445+3043_6445+3044de...
ENST00000683367.1:c.2177-4895_2177-4894del	ENSP00000507780.1:n.2177-4895_2177-4894de...
ENST00000683489.1:c.2292-4427_2292-4426del	ENSP00000508403.1:n.2292-4427_2292-4426de...
ENST00000683680.1:c.2319-4427_2319-4426del	ENSP00000507223.1:n.2319-4427_2319-4426de...
ENST00000684163.1:c.2204-4895_2204-4894del	ENSP00000508262.1:n.2204-4895_2204-4894de...
ENST00000684196.1:n.4543-4895_4543-4894del
ENST00000684325.1:c.2186-12705_2186-12704del	ENSP00000508121.1:n.2186-12705_2186-12704...
ENST00000684385.1:c.2221-4895_2221-4894del	ENSP00000507855.1:n.2221-4895_2221-4894de...
ENST00000684497.1:c.2186-11735_2186-11734del	ENSP00000507057.1:n.2186-11735_2186-11734...
ENST00000382292.9:c.9497_9498del MANE Select	ENSP00000371729.3:p.Phe3166Ter
ENST00000423156.2:c.2186-4895_2186-4894del	ENSP00000390925.2:n.2186-4895_2186-4894de...
ENST00000455470.6:c.2432-4895_2432-4894del	ENSP00000406565.2:n.2432-4895_2432-4894de...
ENST00000382292.7:c.9497_9498del	ENSP00000371729.3:p.Phe3166Ter
ENST00000382298.7:c.9497_9498del	ENSP00000371735.3:p.Phe3166Ter
ENST00000402364.1:c.7247_7248del	ENSP00000385844.1:p.Phe2416Ter
ENST00000423156.1:c.1058-4895_1058-4894del	ENSP00000390925.1:n.1058-4895_1058-4894de...
ENST00000455470.5:c.2130-4895_2130-4894del
NM_001278055.1:c.9056_9057del	NP_001264984.1:p.Phe3019Ter
NM_014363.5:c.9497_9498del	NP_055178.3:p.Phe3166Ter
XM_005266338.1:c.9524_9525del	XP_005266395.1:p.Phe3175Ter
XM_011535038.1:c.9548_9549del	XP_011533340.1:p.Phe3183Ter
XM_011535039.1:c.9515_9516del	XP_011533341.1:p.Phe3172Ter
XM_005266338.2:c.9524_9525del	XP_005266395.1:p.Phe3175Ter
XM_011535039.2:c.9515_9516del	XP_011533341.1:p.Phe3172Ter
XM_017020539.1:c.9488_9489del	XP_016876028.1:p.Phe3163Ter
XM_024449337.1:c.9524_9525del	XP_024305105.1:p.Phe3175Ter
NM_014363.6:c.9497_9498del MANE Select	NP_055178.3:p.Phe3166Ter
NM_001278055.2:c.9056_9057del	NP_001264984.1:p.Phe3019Ter