Canonical Allele Identifier: CA608985216

Gene: SACS

Linked Data

• dbSNP Id: rs1334949984
• gnomAD v2: 13-23905048-A-ATTTTTT
• MyVariant Identifiers: chr13:g.23905048_23905049insTTTTTT (hg19) ; chr13:g.23330909_23330910insTTTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330911_23330912insTTTTTT , CM000675.2:g.23330911_23330912insTTTTTT	GRCh38
NC_000013.10:g.23905050_23905051insTTTTTT , CM000675.1:g.23905050_23905051insTTTTTT	GRCh37
NC_000013.9:g.22803050_22803051insTTTTTT	NCBI36
NG_012342.1:g.107793_107794insAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18795_2186-18794insAAAAAA	ENSP00000508399.1:n.2186-18795_2186-18794insAAAAAA
ENST00000682944.1:c.12993_12994insAAAAAA	ENSP00000507173.1:p.Glu4331_Ser4332insLysLys
ENST00000683210.1:c.2185+22875_2185+22876insAAAAAA	ENSP00000506739.1:n.2185+22875_2185+22876insAAAAAA
ENST00000683270.1:c.6446-1426_6446-1425insAAAAAA	ENSP00000507624.1:n.6446-1426_6446-1425insAAAAAA
ENST00000683367.1:c.2177-1426_2177-1425insAAAAAA	ENSP00000507780.1:n.2177-1426_2177-1425insAAAAAA
ENST00000683489.1:c.2292-958_2292-957insAAAAAA	ENSP00000508403.1:n.2292-958_2292-957insAAAAAA
ENST00000683680.1:c.2319-958_2319-957insAAAAAA	ENSP00000507223.1:n.2319-958_2319-957insAAAAAA
ENST00000684163.1:c.2204-1426_2204-1425insAAAAAA	ENSP00000508262.1:n.2204-1426_2204-1425insAAAAAA
ENST00000684196.1:n.4543-1426_4543-1425insAAAAAA
ENST00000684325.1:c.2186-9236_2186-9235insAAAAAA	ENSP00000508121.1:n.2186-9236_2186-9235insAAAAAA
ENST00000684385.1:c.2221-1426_2221-1425insAAAAAA	ENSP00000507855.1:n.2221-1426_2221-1425insAAAAAA
ENST00000684497.1:c.2186-8266_2186-8265insAAAAAA	ENSP00000507057.1:n.2186-8266_2186-8265insAAAAAA
ENST00000382292.9:c.12966_12967insAAAAAA MANE Select	ENSP00000371729.3:p.Glu4322_Ser4323insLysLys
ENST00000423156.2:c.2186-1426_2186-1425insAAAAAA	ENSP00000390925.2:n.2186-1426_2186-1425insAAAAAA
ENST00000455470.6:c.2432-1426_2432-1425insAAAAAA	ENSP00000406565.2:n.2432-1426_2432-1425insAAAAAA
ENST00000382292.7:c.12966_12967insAAAAAA	ENSP00000371729.3:p.Glu4322_Ser4323insLysLys
ENST00000382298.7:c.12966_12967insAAAAAA	ENSP00000371735.3:p.Glu4322_Ser4323insLysLys
ENST00000402364.1:c.10716_10717insAAAAAA	ENSP00000385844.1:p.Glu3572_Ser3573insLysLys
ENST00000423156.1:c.1058-1426_1058-1425insAAAAAA	ENSP00000390925.1:n.1058-1426_1058-1425insAAAAAA
ENST00000455470.5:c.2130-1426_2130-1425insAAAAAA
NM_001278055.1:c.12525_12526insAAAAAA	NP_001264984.1:p.Glu4175_Ser4176insLysLys
NM_014363.5:c.12966_12967insAAAAAA	NP_055178.3:p.Glu4322_Ser4323insLysLys
XM_005266338.1:c.12993_12994insAAAAAA	XP_005266395.1:p.Glu4331_Ser4332insLysLys
XM_011535038.1:c.13017_13018insAAAAAA	XP_011533340.1:p.Glu4339_Ser4340insLysLys
XM_011535039.1:c.12984_12985insAAAAAA	XP_011533341.1:p.Glu4328_Ser4329insLysLys
XM_005266338.2:c.12993_12994insAAAAAA	XP_005266395.1:p.Glu4331_Ser4332insLysLys
XM_011535039.2:c.12984_12985insAAAAAA	XP_011533341.1:p.Glu4328_Ser4329insLysLys
XM_017020539.1:c.12957_12958insAAAAAA	XP_016876028.1:p.Glu4319_Ser4320insLysLys
XM_024449337.1:c.12993_12994insAAAAAA	XP_024305105.1:p.Glu4331_Ser4332insLysLys
NM_014363.6:c.12966_12967insAAAAAA MANE Select	NP_055178.3:p.Glu4322_Ser4323insLysLys
NM_001278055.2:c.12525_12526insAAAAAA	NP_001264984.1:p.Glu4175_Ser4176insLysLys