Canonical Allele Identifier: CA2078628323

Gene: SACS

Linked Data

• dbSNP Id: rs1868809030

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337946_23337947insCTCTGA , CM000675.2:g.23337946_23337947insCTCTGA	GRCh38
NC_000013.10:g.23912085_23912086insCTCTGA , CM000675.1:g.23912085_23912086insCTCTGA	GRCh37
NC_000013.9:g.22810085_22810086insCTCTGA	NCBI36
NG_012342.1:g.100756_100757insTCAGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15838_2185+15839insTCAGAG	ENSP00000508399.1:n.2185+15838_2185+15839insTCAGAG
ENST00000682944.1:c.5956_5957insTCAGAG	ENSP00000507173.1:p.Lys1986delinsIleArgGlu
ENST00000683210.1:c.2185+15838_2185+15839insTCAGAG	ENSP00000506739.1:n.2185+15838_2185+15839insTCAGAG
ENST00000683270.1:c.5920_5921insTCAGAG	ENSP00000507624.1:p.Lys1974delinsIleArgGlu
ENST00000683367.1:c.2177-8463_2177-8462insTCAGAG	ENSP00000507780.1:n.2177-8463_2177-8462insTCAGAG
ENST00000683489.1:c.2291+3638_2291+3639insTCAGAG	ENSP00000508403.1:n.2291+3638_2291+3639insTCAGAG
ENST00000683680.1:c.2318+3638_2318+3639insTCAGAG	ENSP00000507223.1:n.2318+3638_2318+3639insTCAGAG
ENST00000684163.1:c.2204-8463_2204-8462insTCAGAG	ENSP00000508262.1:n.2204-8463_2204-8462insTCAGAG
ENST00000684196.1:n.4543-8463_4543-8462insTCAGAG
ENST00000684325.1:c.2185+15838_2185+15839insTCAGAG	ENSP00000508121.1:n.2185+15838_2185+15839insTCAGAG
ENST00000684385.1:c.2221-8463_2221-8462insTCAGAG	ENSP00000507855.1:n.2221-8463_2221-8462insTCAGAG
ENST00000684497.1:c.2186-15303_2186-15302insTCAGAG	ENSP00000507057.1:n.2186-15303_2186-15302insTCAGAG
ENST00000382292.9:c.5929_5930insTCAGAG MANE Select	ENSP00000371729.3:p.Lys1977delinsIleArgGlu
ENST00000423156.2:c.2186-8463_2186-8462insTCAGAG	ENSP00000390925.2:n.2186-8463_2186-8462insTCAGAG
ENST00000455470.6:c.2431+3498_2431+3499insTCAGAG	ENSP00000406565.2:n.2431+3498_2431+3499insTCAGAG
ENST00000382292.7:c.5929_5930insTCAGAG	ENSP00000371729.3:p.Lys1977delinsIleArgGlu
ENST00000382298.7:c.5929_5930insTCAGAG	ENSP00000371735.3:p.Lys1977delinsIleArgGlu
ENST00000402364.1:c.3679_3680insTCAGAG	ENSP00000385844.1:p.Lys1227delinsIleArgGlu
ENST00000423156.1:c.1058-8463_1058-8462insTCAGAG	ENSP00000390925.1:n.1058-8463_1058-8462insTCAGAG
ENST00000455470.5:c.2129+3498_2129+3499insTCAGAG
NM_001278055.1:c.5488_5489insTCAGAG	NP_001264984.1:p.Lys1830delinsIleArgGlu
NM_014363.5:c.5929_5930insTCAGAG	NP_055178.3:p.Lys1977delinsIleArgGlu
XM_005266338.1:c.5956_5957insTCAGAG	XP_005266395.1:p.Lys1986delinsIleArgGlu
XM_011535038.1:c.5980_5981insTCAGAG	XP_011533340.1:p.Lys1994delinsIleArgGlu
XM_011535039.1:c.5947_5948insTCAGAG	XP_011533341.1:p.Lys1983delinsIleArgGlu
XM_005266338.2:c.5956_5957insTCAGAG	XP_005266395.1:p.Lys1986delinsIleArgGlu
XM_011535039.2:c.5947_5948insTCAGAG	XP_011533341.1:p.Lys1983delinsIleArgGlu
XM_017020539.1:c.5920_5921insTCAGAG	XP_016876028.1:p.Lys1974delinsIleArgGlu
XM_024449337.1:c.5956_5957insTCAGAG	XP_024305105.1:p.Lys1986delinsIleArgGlu
NM_014363.6:c.5929_5930insTCAGAG MANE Select	NP_055178.3:p.Lys1977delinsIleArgGlu
NM_001278055.2:c.5488_5489insTCAGAG	NP_001264984.1:p.Lys1830delinsIleArgGlu