Canonical Allele Identifier: CA2695217800

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334955_23334958dup , CM000675.2:g.23334955_23334958dup	GRCh38
NC_000013.10:g.23909094_23909097dup , CM000675.1:g.23909094_23909097dup	GRCh37
NC_000013.9:g.22807094_22807097dup	NCBI36
NG_012342.1:g.103747_103750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18829_2185+18832dup	ENSP00000508399.1:n.2185+18829_2185+18832dup
ENST00000682944.1:c.8947_8950dup	ENSP00000507173.1:p.Tyr2984PhefsTer29
ENST00000683210.1:c.2185+18829_2185+18832dup	ENSP00000506739.1:n.2185+18829_2185+18832dup
ENST00000683270.1:c.6445+2466_6445+2469dup	ENSP00000507624.1:n.6445+2466_6445+2469dup
ENST00000683367.1:c.2177-5472_2177-5469dup	ENSP00000507780.1:n.2177-5472_2177-5469dup
ENST00000683489.1:c.2292-5004_2292-5001dup	ENSP00000508403.1:n.2292-5004_2292-5001dup
ENST00000683680.1:c.2319-5004_2319-5001dup	ENSP00000507223.1:n.2319-5004_2319-5001dup
ENST00000684163.1:c.2204-5472_2204-5469dup	ENSP00000508262.1:n.2204-5472_2204-5469dup
ENST00000684196.1:n.4543-5472_4543-5469dup
ENST00000684325.1:c.2186-13282_2186-13279dup	ENSP00000508121.1:n.2186-13282_2186-13279dup
ENST00000684385.1:c.2221-5472_2221-5469dup	ENSP00000507855.1:n.2221-5472_2221-5469dup
ENST00000684497.1:c.2186-12312_2186-12309dup	ENSP00000507057.1:n.2186-12312_2186-12309dup
ENST00000382292.9:c.8920_8923dup MANE Select	ENSP00000371729.3:p.Tyr2975PhefsTer29
ENST00000423156.2:c.2186-5472_2186-5469dup	ENSP00000390925.2:n.2186-5472_2186-5469dup
ENST00000455470.6:c.2432-5472_2432-5469dup	ENSP00000406565.2:n.2432-5472_2432-5469dup
ENST00000382292.7:c.8920_8923dup	ENSP00000371729.3:p.Tyr2975PhefsTer29
ENST00000382298.7:c.8920_8923dup	ENSP00000371735.3:p.Tyr2975PhefsTer29
ENST00000402364.1:c.6670_6673dup	ENSP00000385844.1:p.Tyr2225PhefsTer29
ENST00000423156.1:c.1058-5472_1058-5469dup	ENSP00000390925.1:n.1058-5472_1058-5469dup
ENST00000455470.5:c.2130-5472_2130-5469dup
NM_001278055.1:c.8479_8482dup	NP_001264984.1:p.Tyr2828PhefsTer29
NM_014363.5:c.8920_8923dup	NP_055178.3:p.Tyr2975PhefsTer29
XM_005266338.1:c.8947_8950dup	XP_005266395.1:p.Tyr2984PhefsTer29
XM_011535038.1:c.8971_8974dup	XP_011533340.1:p.Tyr2992PhefsTer29
XM_011535039.1:c.8938_8941dup	XP_011533341.1:p.Tyr2981PhefsTer29
XM_005266338.2:c.8947_8950dup	XP_005266395.1:p.Tyr2984PhefsTer29
XM_011535039.2:c.8938_8941dup	XP_011533341.1:p.Tyr2981PhefsTer29
XM_017020539.1:c.8911_8914dup	XP_016876028.1:p.Tyr2972PhefsTer29
XM_024449337.1:c.8947_8950dup	XP_024305105.1:p.Tyr2984PhefsTer29
NM_014363.6:c.8920_8923dup MANE Select	NP_055178.3:p.Tyr2975PhefsTer29
NM_001278055.2:c.8479_8482dup	NP_001264984.1:p.Tyr2828PhefsTer29