Canonical Allele Identifier: CA608985215

Gene: SACS

Linked Data

• dbSNP Id: rs1401033224
• gnomAD v2: 13-23905044-TCCGA-T
• MyVariant Identifiers: chr13:g.23905045_23905048del (hg19) ; chr13:g.23330906_23330909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330906_23330909del , CM000675.2:g.23330906_23330909del	GRCh38
NC_000013.10:g.23905045_23905048del , CM000675.1:g.23905045_23905048del	GRCh37
NC_000013.9:g.22803045_22803048del	NCBI36
NG_012342.1:g.107794_107797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18794_2186-18791del	ENSP00000508399.1:n.2186-18794_2186-18791del
ENST00000682944.1:c.12994_12997del	ENSP00000507173.1:p.Ser4332AsnfsTer11
ENST00000683210.1:c.2185+22876_2185+22879del	ENSP00000506739.1:n.2185+22876_2185+22879del
ENST00000683270.1:c.6446-1425_6446-1422del	ENSP00000507624.1:n.6446-1425_6446-1422del
ENST00000683367.1:c.2177-1425_2177-1422del	ENSP00000507780.1:n.2177-1425_2177-1422del
ENST00000683489.1:c.2292-957_2292-954del	ENSP00000508403.1:n.2292-957_2292-954del
ENST00000683680.1:c.2319-957_2319-954del	ENSP00000507223.1:n.2319-957_2319-954del
ENST00000684163.1:c.2204-1425_2204-1422del	ENSP00000508262.1:n.2204-1425_2204-1422del
ENST00000684196.1:n.4543-1425_4543-1422del
ENST00000684325.1:c.2186-9235_2186-9232del	ENSP00000508121.1:n.2186-9235_2186-9232del
ENST00000684385.1:c.2221-1425_2221-1422del	ENSP00000507855.1:n.2221-1425_2221-1422del
ENST00000684497.1:c.2186-8265_2186-8262del	ENSP00000507057.1:n.2186-8265_2186-8262del
ENST00000382292.9:c.12967_12970del MANE Select	ENSP00000371729.3:p.Ser4323AsnfsTer11
ENST00000423156.2:c.2186-1425_2186-1422del	ENSP00000390925.2:n.2186-1425_2186-1422del
ENST00000455470.6:c.2432-1425_2432-1422del	ENSP00000406565.2:n.2432-1425_2432-1422del
ENST00000382292.7:c.12967_12970del	ENSP00000371729.3:p.Ser4323AsnfsTer11
ENST00000382298.7:c.12967_12970del	ENSP00000371735.3:p.Ser4323AsnfsTer11
ENST00000402364.1:c.10717_10720del	ENSP00000385844.1:p.Ser3573AsnfsTer11
ENST00000423156.1:c.1058-1425_1058-1422del	ENSP00000390925.1:n.1058-1425_1058-1422del
ENST00000455470.5:c.2130-1425_2130-1422del
NM_001278055.1:c.12526_12529del	NP_001264984.1:p.Ser4176AsnfsTer11
NM_014363.5:c.12967_12970del	NP_055178.3:p.Ser4323AsnfsTer11
XM_005266338.1:c.12994_12997del	XP_005266395.1:p.Ser4332AsnfsTer11
XM_011535038.1:c.13018_13021del	XP_011533340.1:p.Ser4340AsnfsTer11
XM_011535039.1:c.12985_12988del	XP_011533341.1:p.Ser4329AsnfsTer11
XM_005266338.2:c.12994_12997del	XP_005266395.1:p.Ser4332AsnfsTer11
XM_011535039.2:c.12985_12988del	XP_011533341.1:p.Ser4329AsnfsTer11
XM_017020539.1:c.12958_12961del	XP_016876028.1:p.Ser4320AsnfsTer11
XM_024449337.1:c.12994_12997del	XP_024305105.1:p.Ser4332AsnfsTer11
NM_014363.6:c.12967_12970del MANE Select	NP_055178.3:p.Ser4323AsnfsTer11
NM_001278055.2:c.12526_12529del	NP_001264984.1:p.Ser4176AsnfsTer11