Canonical Allele Identifier: CA608985210

Gene: SACS

Linked Data

• dbSNP Id: rs1219180969
• gnomAD v2: 13-23904763-CTTTGTTCTG-C
• gnomAD v4: 13-23330624-CTTTGTTCTG-C
• MyVariant Identifiers: chr13:g.23904764_23904772del (hg19) ; chr13:g.23330625_23330633del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330627_23330635del , CM000675.2:g.23330627_23330635del	GRCh38
NC_000013.10:g.23904766_23904774del , CM000675.1:g.23904766_23904774del	GRCh37
NC_000013.9:g.22802766_22802774del	NCBI36
NG_012342.1:g.108070_108078del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-18518_2186-18510del	ENSP00000508399.1:n.2186-18518_2186-18510del
ENST00000682944.1:c.13270_13278del	ENSP00000507173.1:p.Gln4424_Lys4426del
ENST00000683210.1:c.2185+23152_2185+23160del	ENSP00000506739.1:n.2185+23152_2185+23160del
ENST00000683270.1:c.6446-1149_6446-1141del	ENSP00000507624.1:n.6446-1149_6446-1141del
ENST00000683367.1:c.2177-1149_2177-1141del	ENSP00000507780.1:n.2177-1149_2177-1141del
ENST00000683489.1:c.2292-681_2292-673del	ENSP00000508403.1:n.2292-681_2292-673del
ENST00000683680.1:c.2319-681_2319-673del	ENSP00000507223.1:n.2319-681_2319-673del
ENST00000684163.1:c.2204-1149_2204-1141del	ENSP00000508262.1:n.2204-1149_2204-1141del
ENST00000684196.1:n.4543-1149_4543-1141del
ENST00000684325.1:c.2186-8959_2186-8951del	ENSP00000508121.1:n.2186-8959_2186-8951del
ENST00000684385.1:c.2221-1149_2221-1141del	ENSP00000507855.1:n.2221-1149_2221-1141del
ENST00000684497.1:c.2186-7989_2186-7981del	ENSP00000507057.1:n.2186-7989_2186-7981del
ENST00000382292.9:c.13243_13251del MANE Select	ENSP00000371729.3:p.Gln4415_Lys4417del
ENST00000423156.2:c.2186-1149_2186-1141del	ENSP00000390925.2:n.2186-1149_2186-1141del
ENST00000455470.6:c.2432-1149_2432-1141del	ENSP00000406565.2:n.2432-1149_2432-1141del
ENST00000382292.7:c.13243_13251del	ENSP00000371729.3:p.Gln4415_Lys4417del
ENST00000382298.7:c.13243_13251del	ENSP00000371735.3:p.Gln4415_Lys4417del
ENST00000402364.1:c.10993_11001del	ENSP00000385844.1:p.Gln3665_Lys3667del
ENST00000423156.1:c.1058-1149_1058-1141del	ENSP00000390925.1:n.1058-1149_1058-1141del
ENST00000455470.5:c.2130-1149_2130-1141del
NM_001278055.1:c.12802_12810del	NP_001264984.1:p.Gln4268_Lys4270del
NM_014363.5:c.13243_13251del	NP_055178.3:p.Gln4415_Lys4417del
XM_005266338.1:c.13270_13278del	XP_005266395.1:p.Gln4424_Lys4426del
XM_011535038.1:c.13294_13302del	XP_011533340.1:p.Gln4432_Lys4434del
XM_011535039.1:c.13261_13269del	XP_011533341.1:p.Gln4421_Lys4423del
XM_005266338.2:c.13270_13278del	XP_005266395.1:p.Gln4424_Lys4426del
XM_011535039.2:c.13261_13269del	XP_011533341.1:p.Gln4421_Lys4423del
XM_017020539.1:c.13234_13242del	XP_016876028.1:p.Gln4412_Lys4414del
XM_024449337.1:c.13270_13278del	XP_024305105.1:p.Gln4424_Lys4426del
NM_014363.6:c.13243_13251del MANE Select	NP_055178.3:p.Gln4415_Lys4417del
NM_001278055.2:c.12802_12810del	NP_001264984.1:p.Gln4268_Lys4270del