Canonical Allele Identifier: CA2622328912

Gene: SACS

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23334065_23334067del , CM000675.2:g.23334065_23334067del	GRCh38
NC_000013.10:g.23908204_23908206del , CM000675.1:g.23908204_23908206del	GRCh37
NC_000013.9:g.22806204_22806206del	NCBI36
NG_012342.1:g.104642_104644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+19724_2185+19726del	ENSP00000508399.1:n.2185+19724_2185+19726del
ENST00000682944.1:c.9842_9844del	ENSP00000507173.1:p.Val3281del
ENST00000683210.1:c.2185+19724_2185+19726del	ENSP00000506739.1:n.2185+19724_2185+19726del
ENST00000683270.1:c.6445+3361_6445+3363del	ENSP00000507624.1:n.6445+3361_6445+3363del
ENST00000683367.1:c.2177-4577_2177-4575del	ENSP00000507780.1:n.2177-4577_2177-4575del
ENST00000683489.1:c.2292-4109_2292-4107del	ENSP00000508403.1:n.2292-4109_2292-4107del
ENST00000683680.1:c.2319-4109_2319-4107del	ENSP00000507223.1:n.2319-4109_2319-4107del
ENST00000684163.1:c.2204-4577_2204-4575del	ENSP00000508262.1:n.2204-4577_2204-4575del
ENST00000684196.1:n.4543-4577_4543-4575del
ENST00000684325.1:c.2186-12387_2186-12385del	ENSP00000508121.1:n.2186-12387_2186-12385del
ENST00000684385.1:c.2221-4577_2221-4575del	ENSP00000507855.1:n.2221-4577_2221-4575del
ENST00000684497.1:c.2186-11417_2186-11415del	ENSP00000507057.1:n.2186-11417_2186-11415del
ENST00000382292.9:c.9815_9817del MANE Select	ENSP00000371729.3:p.Val3272del
ENST00000423156.2:c.2186-4577_2186-4575del	ENSP00000390925.2:n.2186-4577_2186-4575del
ENST00000455470.6:c.2432-4577_2432-4575del	ENSP00000406565.2:n.2432-4577_2432-4575del
ENST00000382292.7:c.9815_9817del	ENSP00000371729.3:p.Val3272del
ENST00000382298.7:c.9815_9817del	ENSP00000371735.3:p.Val3272del
ENST00000402364.1:c.7565_7567del	ENSP00000385844.1:p.Val2522del
ENST00000423156.1:c.1058-4577_1058-4575del	ENSP00000390925.1:n.1058-4577_1058-4575del
ENST00000455470.5:c.2130-4577_2130-4575del
NM_001278055.1:c.9374_9376del	NP_001264984.1:p.Val3125del
NM_014363.5:c.9815_9817del	NP_055178.3:p.Val3272del
XM_005266338.1:c.9842_9844del	XP_005266395.1:p.Val3281del
XM_011535038.1:c.9866_9868del	XP_011533340.1:p.Val3289del
XM_011535039.1:c.9833_9835del	XP_011533341.1:p.Val3278del
XM_005266338.2:c.9842_9844del	XP_005266395.1:p.Val3281del
XM_011535039.2:c.9833_9835del	XP_011533341.1:p.Val3278del
XM_017020539.1:c.9806_9808del	XP_016876028.1:p.Val3269del
XM_024449337.1:c.9842_9844del	XP_024305105.1:p.Val3281del
NM_014363.6:c.9815_9817del MANE Select	NP_055178.3:p.Val3272del
NM_001278055.2:c.9374_9376del	NP_001264984.1:p.Val3125del