Canonical Allele Identifier: CA2622329056

Gene: SACS

Linked Data

• gnomAD v4: 13-23340619-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23340619_23340620insC , CM000675.2:g.23340619_23340620insC	GRCh38
NC_000013.10:g.23914758_23914759insC , CM000675.1:g.23914758_23914759insC	GRCh37
NC_000013.9:g.22812758_22812759insC	NCBI36
NG_012342.1:g.98083_98084insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+13165_2185+13166insG	ENSP00000508399.1:n.2185+13165_2185+13166...
ENST00000682944.1:c.3283_3284insG	ENSP00000507173.1:p.Ser1095CysfsTer26
ENST00000683210.1:c.2185+13165_2185+13166insG	ENSP00000506739.1:n.2185+13165_2185+13166...
ENST00000683270.1:c.3247_3248insG	ENSP00000507624.1:p.Ser1083CysfsTer26
ENST00000683367.1:c.2177-11136_2177-11135insG	ENSP00000507780.1:n.2177-11136_2177-11135...
ENST00000683489.1:c.2291+965_2291+966insG	ENSP00000508403.1:n.2291+965_2291+966insG...
ENST00000683680.1:c.2318+965_2318+966insG	ENSP00000507223.1:n.2318+965_2318+966insG...
ENST00000684163.1:c.2203+6191_2203+6192insG	ENSP00000508262.1:n.2203+6191_2203+6192in...
ENST00000684196.1:n.4543-11136_4543-11135insG
ENST00000684325.1:c.2185+13165_2185+13166insG	ENSP00000508121.1:n.2185+13165_2185+13166...
ENST00000684385.1:c.2220+6191_2220+6192insG	ENSP00000507855.1:n.2220+6191_2220+6192in...
ENST00000684497.1:c.2185+13165_2185+13166insG	ENSP00000507057.1:n.2185+13165_2185+13166...
ENST00000382292.9:c.3256_3257insG MANE Select	ENSP00000371729.3:p.Ser1086CysfsTer26
ENST00000423156.2:c.2186-11136_2186-11135insG	ENSP00000390925.2:n.2186-11136_2186-11135...
ENST00000455470.6:c.2431+825_2431+826insG	ENSP00000406565.2:n.2431+825_2431+826insG...
ENST00000382292.7:c.3256_3257insG	ENSP00000371729.3:p.Ser1086CysfsTer26
ENST00000382298.7:c.3256_3257insG	ENSP00000371735.3:p.Ser1086CysfsTer26
ENST00000402364.1:c.1006_1007insG	ENSP00000385844.1:p.Ser336CysfsTer26
ENST00000423156.1:c.1058-11136_1058-11135insG	ENSP00000390925.1:n.1058-11136_1058-11135...
ENST00000455470.5:c.2129+825_2129+826insG
NM_001278055.1:c.2815_2816insG	NP_001264984.1:p.Ser939CysfsTer26
NM_014363.5:c.3256_3257insG	NP_055178.3:p.Ser1086CysfsTer26
XM_005266338.1:c.3283_3284insG	XP_005266395.1:p.Ser1095CysfsTer26
XM_011535038.1:c.3307_3308insG	XP_011533340.1:p.Ser1103CysfsTer26
XM_011535039.1:c.3274_3275insG	XP_011533341.1:p.Ser1092CysfsTer26
XM_005266338.2:c.3283_3284insG	XP_005266395.1:p.Ser1095CysfsTer26
XM_011535039.2:c.3274_3275insG	XP_011533341.1:p.Ser1092CysfsTer26
XM_017020539.1:c.3247_3248insG	XP_016876028.1:p.Ser1083CysfsTer26
XM_024449337.1:c.3283_3284insG	XP_024305105.1:p.Ser1095CysfsTer26
NM_014363.6:c.3256_3257insG MANE Select	NP_055178.3:p.Ser1086CysfsTer26
NM_001278055.2:c.2815_2816insG	NP_001264984.1:p.Ser939CysfsTer26