Canonical Allele Identifier: CA2622329000

Gene: SACS

Linked Data

• gnomAD v4: 13-23336104-TACACACAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336105_23336113del , CM000675.2:g.23336105_23336113del	GRCh38
NC_000013.10:g.23910244_23910252del , CM000675.1:g.23910244_23910252del	GRCh37
NC_000013.9:g.22808244_22808252del	NCBI36
NG_012342.1:g.102590_102598del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+17672_2185+17680del	ENSP00000508399.1:n.2185+17672_2185+17680del
ENST00000682944.1:c.7790_7798del	ENSP00000507173.1:p.Leu2597_Tyr2600delinsHis
ENST00000683210.1:c.2185+17672_2185+17680del	ENSP00000506739.1:n.2185+17672_2185+17680del
ENST00000683270.1:c.6445+1309_6445+1317del	ENSP00000507624.1:n.6445+1309_6445+1317del
ENST00000683367.1:c.2177-6629_2177-6621del	ENSP00000507780.1:n.2177-6629_2177-6621del
ENST00000683489.1:c.2291+5472_2291+5480del	ENSP00000508403.1:n.2291+5472_2291+5480del
ENST00000683680.1:c.2318+5472_2318+5480del	ENSP00000507223.1:n.2318+5472_2318+5480del
ENST00000684163.1:c.2204-6629_2204-6621del	ENSP00000508262.1:n.2204-6629_2204-6621del
ENST00000684196.1:n.4543-6629_4543-6621del
ENST00000684325.1:c.2186-14439_2186-14431del	ENSP00000508121.1:n.2186-14439_2186-14431del
ENST00000684385.1:c.2221-6629_2221-6621del	ENSP00000507855.1:n.2221-6629_2221-6621del
ENST00000684497.1:c.2186-13469_2186-13461del	ENSP00000507057.1:n.2186-13469_2186-13461del
ENST00000382292.9:c.7763_7771del MANE Select	ENSP00000371729.3:p.Leu2588_Tyr2591delinsHis
ENST00000423156.2:c.2186-6629_2186-6621del	ENSP00000390925.2:n.2186-6629_2186-6621del
ENST00000455470.6:c.2431+5332_2431+5340del	ENSP00000406565.2:n.2431+5332_2431+5340del
ENST00000382292.7:c.7763_7771del	ENSP00000371729.3:p.Leu2588_Tyr2591delinsHis
ENST00000382298.7:c.7763_7771del	ENSP00000371735.3:p.Leu2588_Tyr2591delinsHis
ENST00000402364.1:c.5513_5521del	ENSP00000385844.1:p.Leu1838_Tyr1841delinsHis
ENST00000423156.1:c.1058-6629_1058-6621del	ENSP00000390925.1:n.1058-6629_1058-6621del
ENST00000455470.5:c.2129+5332_2129+5340del
NM_001278055.1:c.7322_7330del	NP_001264984.1:p.Leu2441_Tyr2444delinsHis
NM_014363.5:c.7763_7771del	NP_055178.3:p.Leu2588_Tyr2591delinsHis
XM_005266338.1:c.7790_7798del	XP_005266395.1:p.Leu2597_Tyr2600delinsHis
XM_011535038.1:c.7814_7822del	XP_011533340.1:p.Leu2605_Tyr2608delinsHis
XM_011535039.1:c.7781_7789del	XP_011533341.1:p.Leu2594_Tyr2597delinsHis
XM_005266338.2:c.7790_7798del	XP_005266395.1:p.Leu2597_Tyr2600delinsHis
XM_011535039.2:c.7781_7789del	XP_011533341.1:p.Leu2594_Tyr2597delinsHis
XM_017020539.1:c.7754_7762del	XP_016876028.1:p.Leu2585_Tyr2588delinsHis
XM_024449337.1:c.7790_7798del	XP_024305105.1:p.Leu2597_Tyr2600delinsHis
NM_014363.6:c.7763_7771del MANE Select	NP_055178.3:p.Leu2588_Tyr2591delinsHis
NM_001278055.2:c.7322_7330del	NP_001264984.1:p.Leu2441_Tyr2444delinsHis