Canonical Allele Identifier: CA608985207

Gene: SACS

Linked Data

• dbSNP Id: rs1414152447
• gnomAD v2: 13-23904621-AGGTCATTCC-A
• gnomAD v4: 13-23330482-AGGTCATTCC-A
• MyVariant Identifiers: chr13:g.23904622_23904630del (hg19) ; chr13:g.23330483_23330491del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330483_23330491del , CM000675.2:g.23330483_23330491del	GRCh38
NC_000013.10:g.23904622_23904630del , CM000675.1:g.23904622_23904630del	GRCh37
NC_000013.9:g.22802622_22802630del	NCBI36
NG_012342.1:g.108212_108220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18376_2186-18368del	ENSP00000508399.1:n.2186-18376_2186-18368del
ENST00000682944.1:c.13412_13420del	ENSP00000507173.1:p.Arg4471_Leu4474delinsIle
ENST00000683210.1:c.2185+23294_2185+23302del	ENSP00000506739.1:n.2185+23294_2185+23302del
ENST00000683270.1:c.6446-1007_6446-999del	ENSP00000507624.1:n.6446-1007_6446-999del
ENST00000683367.1:c.2177-1007_2177-999del	ENSP00000507780.1:n.2177-1007_2177-999del
ENST00000683489.1:c.2292-539_2292-531del	ENSP00000508403.1:n.2292-539_2292-531del
ENST00000683680.1:c.2319-539_2319-531del	ENSP00000507223.1:n.2319-539_2319-531del
ENST00000684163.1:c.2204-1007_2204-999del	ENSP00000508262.1:n.2204-1007_2204-999del
ENST00000684196.1:n.4543-1007_4543-999del
ENST00000684325.1:c.2186-8817_2186-8809del	ENSP00000508121.1:n.2186-8817_2186-8809del
ENST00000684385.1:c.2221-1007_2221-999del	ENSP00000507855.1:n.2221-1007_2221-999del
ENST00000684497.1:c.2186-7847_2186-7839del	ENSP00000507057.1:n.2186-7847_2186-7839del
ENST00000382292.9:c.13385_13393del MANE Select	ENSP00000371729.3:p.Arg4462_Leu4465delinsIle
ENST00000423156.2:c.2186-1007_2186-999del	ENSP00000390925.2:n.2186-1007_2186-999del
ENST00000455470.6:c.2432-1007_2432-999del	ENSP00000406565.2:n.2432-1007_2432-999del
ENST00000382292.7:c.13385_13393del	ENSP00000371729.3:p.Arg4462_Leu4465delinsIle
ENST00000382298.7:c.13385_13393del	ENSP00000371735.3:p.Arg4462_Leu4465delinsIle
ENST00000402364.1:c.11135_11143del	ENSP00000385844.1:p.Arg3712_Leu3715delinsIle
ENST00000423156.1:c.1058-1007_1058-999del	ENSP00000390925.1:n.1058-1007_1058-999del
ENST00000455470.5:c.2130-1007_2130-999del
NM_001278055.1:c.12944_12952del	NP_001264984.1:p.Arg4315_Leu4318delinsIle
NM_014363.5:c.13385_13393del	NP_055178.3:p.Arg4462_Leu4465delinsIle
XM_005266338.1:c.13412_13420del	XP_005266395.1:p.Arg4471_Leu4474delinsIle
XM_011535038.1:c.13436_13444del	XP_011533340.1:p.Arg4479_Leu4482delinsIle
XM_011535039.1:c.13403_13411del	XP_011533341.1:p.Arg4468_Leu4471delinsIle
XM_005266338.2:c.13412_13420del	XP_005266395.1:p.Arg4471_Leu4474delinsIle
XM_011535039.2:c.13403_13411del	XP_011533341.1:p.Arg4468_Leu4471delinsIle
XM_017020539.1:c.13376_13384del	XP_016876028.1:p.Arg4459_Leu4462delinsIle
XM_024449337.1:c.13412_13420del	XP_024305105.1:p.Arg4471_Leu4474delinsIle
NM_014363.6:c.13385_13393del MANE Select	NP_055178.3:p.Arg4462_Leu4465delinsIle
NM_001278055.2:c.12944_12952del	NP_001264984.1:p.Arg4315_Leu4318delinsIle