Canonical Allele Identifier: CA2622328990

Gene: SACS

Linked Data

• ClinVar Variation Id: 2777989
• ClinVar RCV Id: RCV003751000
• gnomAD v4: 13-23335685-GCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335686_23335687del , CM000675.2:g.23335686_23335687del	GRCh38
NC_000013.10:g.23909825_23909826del , CM000675.1:g.23909825_23909826del	GRCh37
NC_000013.9:g.22807825_22807826del	NCBI36
NG_012342.1:g.103016_103017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18098_2185+18099del	ENSP00000508399.1:n.2185+18098_2185+18099del
ENST00000682944.1:c.8216_8217del	ENSP00000507173.1:p.Leu2739ProfsTer12
ENST00000683210.1:c.2185+18098_2185+18099del	ENSP00000506739.1:n.2185+18098_2185+18099del
ENST00000683270.1:c.6445+1735_6445+1736del	ENSP00000507624.1:n.6445+1735_6445+1736del
ENST00000683367.1:c.2177-6203_2177-6202del	ENSP00000507780.1:n.2177-6203_2177-6202del
ENST00000683489.1:c.2292-5735_2292-5734del	ENSP00000508403.1:n.2292-5735_2292-5734del
ENST00000683680.1:c.2319-5735_2319-5734del	ENSP00000507223.1:n.2319-5735_2319-5734del
ENST00000684163.1:c.2204-6203_2204-6202del	ENSP00000508262.1:n.2204-6203_2204-6202del
ENST00000684196.1:n.4543-6203_4543-6202del
ENST00000684325.1:c.2186-14013_2186-14012del	ENSP00000508121.1:n.2186-14013_2186-14012del
ENST00000684385.1:c.2221-6203_2221-6202del	ENSP00000507855.1:n.2221-6203_2221-6202del
ENST00000684497.1:c.2186-13043_2186-13042del	ENSP00000507057.1:n.2186-13043_2186-13042del
ENST00000382292.9:c.8189_8190del MANE Select	ENSP00000371729.3:p.Leu2730ProfsTer12
ENST00000423156.2:c.2186-6203_2186-6202del	ENSP00000390925.2:n.2186-6203_2186-6202del
ENST00000455470.6:c.2431+5758_2431+5759del	ENSP00000406565.2:n.2431+5758_2431+5759del
ENST00000382292.7:c.8189_8190del	ENSP00000371729.3:p.Leu2730ProfsTer12
ENST00000382298.7:c.8189_8190del	ENSP00000371735.3:p.Leu2730ProfsTer12
ENST00000402364.1:c.5939_5940del	ENSP00000385844.1:p.Leu1980ProfsTer12
ENST00000423156.1:c.1058-6203_1058-6202del	ENSP00000390925.1:n.1058-6203_1058-6202del
ENST00000455470.5:c.2129+5758_2129+5759del
NM_001278055.1:c.7748_7749del	NP_001264984.1:p.Leu2583ProfsTer12
NM_014363.5:c.8189_8190del	NP_055178.3:p.Leu2730ProfsTer12
XM_005266338.1:c.8216_8217del	XP_005266395.1:p.Leu2739ProfsTer12
XM_011535038.1:c.8240_8241del	XP_011533340.1:p.Leu2747ProfsTer12
XM_011535039.1:c.8207_8208del	XP_011533341.1:p.Leu2736ProfsTer12
XM_005266338.2:c.8216_8217del	XP_005266395.1:p.Leu2739ProfsTer12
XM_011535039.2:c.8207_8208del	XP_011533341.1:p.Leu2736ProfsTer12
XM_017020539.1:c.8180_8181del	XP_016876028.1:p.Leu2727ProfsTer12
XM_024449337.1:c.8216_8217del	XP_024305105.1:p.Leu2739ProfsTer12
NM_014363.6:c.8189_8190del MANE Select	NP_055178.3:p.Leu2730ProfsTer12
NM_001278055.2:c.7748_7749del	NP_001264984.1:p.Leu2583ProfsTer12