Canonical Allele Identifier: CA2695217803

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335585_23335587del , CM000675.2:g.23335585_23335587del	GRCh38
NC_000013.10:g.23909724_23909726del , CM000675.1:g.23909724_23909726del	GRCh37
NC_000013.9:g.22807724_22807726del	NCBI36
NG_012342.1:g.103116_103118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18198_2185+18200del	ENSP00000508399.1:n.2185+18198_2185+18200del
ENST00000682944.1:c.8316_8318del	ENSP00000507173.1:p.Tyr2772Ter
ENST00000683210.1:c.2185+18198_2185+18200del	ENSP00000506739.1:n.2185+18198_2185+18200del
ENST00000683270.1:c.6445+1835_6445+1837del	ENSP00000507624.1:n.6445+1835_6445+1837del
ENST00000683367.1:c.2177-6103_2177-6101del	ENSP00000507780.1:n.2177-6103_2177-6101del
ENST00000683489.1:c.2292-5635_2292-5633del	ENSP00000508403.1:n.2292-5635_2292-5633del
ENST00000683680.1:c.2319-5635_2319-5633del	ENSP00000507223.1:n.2319-5635_2319-5633del
ENST00000684163.1:c.2204-6103_2204-6101del	ENSP00000508262.1:n.2204-6103_2204-6101del
ENST00000684196.1:n.4543-6103_4543-6101del
ENST00000684325.1:c.2186-13913_2186-13911del	ENSP00000508121.1:n.2186-13913_2186-13911del
ENST00000684385.1:c.2221-6103_2221-6101del	ENSP00000507855.1:n.2221-6103_2221-6101del
ENST00000684497.1:c.2186-12943_2186-12941del	ENSP00000507057.1:n.2186-12943_2186-12941del
ENST00000382292.9:c.8289_8291del MANE Select	ENSP00000371729.3:p.Tyr2763Ter
ENST00000423156.2:c.2186-6103_2186-6101del	ENSP00000390925.2:n.2186-6103_2186-6101del
ENST00000455470.6:c.2431+5858_2431+5860del	ENSP00000406565.2:n.2431+5858_2431+5860del
ENST00000382292.7:c.8289_8291del	ENSP00000371729.3:p.Tyr2763Ter
ENST00000382298.7:c.8289_8291del	ENSP00000371735.3:p.Tyr2763Ter
ENST00000402364.1:c.6039_6041del	ENSP00000385844.1:p.Tyr2013Ter
ENST00000423156.1:c.1058-6103_1058-6101del	ENSP00000390925.1:n.1058-6103_1058-6101del
ENST00000455470.5:c.2129+5858_2129+5860del
NM_001278055.1:c.7848_7850del	NP_001264984.1:p.Tyr2616Ter
NM_014363.5:c.8289_8291del	NP_055178.3:p.Tyr2763Ter
XM_005266338.1:c.8316_8318del	XP_005266395.1:p.Tyr2772Ter
XM_011535038.1:c.8340_8342del	XP_011533340.1:p.Tyr2780Ter
XM_011535039.1:c.8307_8309del	XP_011533341.1:p.Tyr2769Ter
XM_005266338.2:c.8316_8318del	XP_005266395.1:p.Tyr2772Ter
XM_011535039.2:c.8307_8309del	XP_011533341.1:p.Tyr2769Ter
XM_017020539.1:c.8280_8282del	XP_016876028.1:p.Tyr2760Ter
XM_024449337.1:c.8316_8318del	XP_024305105.1:p.Tyr2772Ter
NM_014363.6:c.8289_8291del MANE Select	NP_055178.3:p.Tyr2763Ter
NM_001278055.2:c.7848_7850del	NP_001264984.1:p.Tyr2616Ter