Canonical Allele Identifier: CA2622328879

Gene: SACS

Linked Data

• ClinVar Variation Id: 2678562
• ClinVar RCV Id: RCV003466372
• gnomAD v4: 13-23331334-TATTCTCCCGGGTAAAAAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23331339_23331357del , CM000675.2:g.23331339_23331357del	GRCh38
NC_000013.10:g.23905478_23905496del , CM000675.1:g.23905478_23905496del	GRCh37
NC_000013.9:g.22803478_22803496del	NCBI36
NG_012342.1:g.107350_107368del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2186-19238_2186-19220del	ENSP00000508399.1:n.2186-19238_2186-19220del
ENST00000682944.1:c.12550_12568del	ENSP00000507173.1:p.Val4184MetfsTer?
ENST00000683210.1:c.2185+22432_2185+22450del	ENSP00000506739.1:n.2185+22432_2185+22450del
ENST00000683270.1:c.6446-1869_6446-1851del	ENSP00000507624.1:n.6446-1869_6446-1851del
ENST00000683367.1:c.2177-1869_2177-1851del	ENSP00000507780.1:n.2177-1869_2177-1851del
ENST00000683489.1:c.2292-1401_2292-1383del	ENSP00000508403.1:n.2292-1401_2292-1383del
ENST00000683680.1:c.2319-1401_2319-1383del	ENSP00000507223.1:n.2319-1401_2319-1383del
ENST00000684163.1:c.2204-1869_2204-1851del	ENSP00000508262.1:n.2204-1869_2204-1851del
ENST00000684196.1:n.4543-1869_4543-1851del
ENST00000684325.1:c.2186-9679_2186-9661del	ENSP00000508121.1:n.2186-9679_2186-9661del
ENST00000684385.1:c.2221-1869_2221-1851del	ENSP00000507855.1:n.2221-1869_2221-1851del
ENST00000684497.1:c.2186-8709_2186-8691del	ENSP00000507057.1:n.2186-8709_2186-8691del
ENST00000382292.9:c.12523_12541del MANE Select	ENSP00000371729.3:p.Val4175MetfsTer?
ENST00000423156.2:c.2186-1869_2186-1851del	ENSP00000390925.2:n.2186-1869_2186-1851del
ENST00000455470.6:c.2432-1869_2432-1851del	ENSP00000406565.2:n.2432-1869_2432-1851del
ENST00000382292.7:c.12523_12541del	ENSP00000371729.3:p.Val4175MetfsTer?
ENST00000382298.7:c.12523_12541del	ENSP00000371735.3:p.Val4175MetfsTer?
ENST00000402364.1:c.10273_10291del	ENSP00000385844.1:p.Val3425MetfsTer?
ENST00000423156.1:c.1058-1869_1058-1851del	ENSP00000390925.1:n.1058-1869_1058-1851del
ENST00000455470.5:c.2130-1869_2130-1851del
NM_001278055.1:c.12082_12100del	NP_001264984.1:p.Val4028MetfsTer?
NM_014363.5:c.12523_12541del	NP_055178.3:p.Val4175MetfsTer?
XM_005266338.1:c.12550_12568del	XP_005266395.1:p.Val4184MetfsTer?
XM_011535038.1:c.12574_12592del	XP_011533340.1:p.Val4192MetfsTer?
XM_011535039.1:c.12541_12559del	XP_011533341.1:p.Val4181MetfsTer?
XM_005266338.2:c.12550_12568del	XP_005266395.1:p.Val4184MetfsTer?
XM_011535039.2:c.12541_12559del	XP_011533341.1:p.Val4181MetfsTer?
XM_017020539.1:c.12514_12532del	XP_016876028.1:p.Val4172MetfsTer?
XM_024449337.1:c.12550_12568del	XP_024305105.1:p.Val4184MetfsTer?
NM_014363.6:c.12523_12541del MANE Select	NP_055178.3:p.Val4175MetfsTer?
NM_001278055.2:c.12082_12100del	NP_001264984.1:p.Val4028MetfsTer?