Canonical Allele Identifier: CA2622329043

Gene: SACS

Linked Data

• gnomAD v4: 13-23337916-G-GGTTTAATC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337916_23337917insGTTTAATC , CM000675.2:g.23337916_23337917insGTTTAATC	GRCh38
NC_000013.10:g.23912055_23912056insGTTTAATC , CM000675.1:g.23912055_23912056insGTTTAATC	GRCh37
NC_000013.9:g.22810055_22810056insGTTTAATC	NCBI36
NG_012342.1:g.100786_100787insGATTAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+15868_2185+15869insGATTAAAC	ENSP00000508399.1:n.2185+15868_2185+15869insGATTAAAC
ENST00000682944.1:c.5986_5987insGATTAAAC	ENSP00000507173.1:p.Ser1996Ter
ENST00000683210.1:c.2185+15868_2185+15869insGATTAAAC	ENSP00000506739.1:n.2185+15868_2185+15869insGATTAAAC
ENST00000683270.1:c.5950_5951insGATTAAAC	ENSP00000507624.1:p.Ser1984Ter
ENST00000683367.1:c.2177-8433_2177-8432insGATTAAAC	ENSP00000507780.1:n.2177-8433_2177-8432insGATTAAAC
ENST00000683489.1:c.2291+3668_2291+3669insGATTAAAC	ENSP00000508403.1:n.2291+3668_2291+3669insGATTAAAC
ENST00000683680.1:c.2318+3668_2318+3669insGATTAAAC	ENSP00000507223.1:n.2318+3668_2318+3669insGATTAAAC
ENST00000684163.1:c.2204-8433_2204-8432insGATTAAAC	ENSP00000508262.1:n.2204-8433_2204-8432insGATTAAAC
ENST00000684196.1:n.4543-8433_4543-8432insGATTAAAC
ENST00000684325.1:c.2185+15868_2185+15869insGATTAAAC	ENSP00000508121.1:n.2185+15868_2185+15869insGATTAAAC
ENST00000684385.1:c.2221-8433_2221-8432insGATTAAAC	ENSP00000507855.1:n.2221-8433_2221-8432insGATTAAAC
ENST00000684497.1:c.2186-15273_2186-15272insGATTAAAC	ENSP00000507057.1:n.2186-15273_2186-15272insGATTAAAC
ENST00000382292.9:c.5959_5960insGATTAAAC MANE Select	ENSP00000371729.3:p.Ser1987Ter
ENST00000423156.2:c.2186-8433_2186-8432insGATTAAAC	ENSP00000390925.2:n.2186-8433_2186-8432insGATTAAAC
ENST00000455470.6:c.2431+3528_2431+3529insGATTAAAC	ENSP00000406565.2:n.2431+3528_2431+3529insGATTAAAC
ENST00000382292.7:c.5959_5960insGATTAAAC	ENSP00000371729.3:p.Ser1987Ter
ENST00000382298.7:c.5959_5960insGATTAAAC	ENSP00000371735.3:p.Ser1987Ter
ENST00000402364.1:c.3709_3710insGATTAAAC	ENSP00000385844.1:p.Ser1237Ter
ENST00000423156.1:c.1058-8433_1058-8432insGATTAAAC	ENSP00000390925.1:n.1058-8433_1058-8432insGATTAAAC
ENST00000455470.5:c.2129+3528_2129+3529insGATTAAAC
NM_001278055.1:c.5518_5519insGATTAAAC	NP_001264984.1:p.Ser1840Ter
NM_014363.5:c.5959_5960insGATTAAAC	NP_055178.3:p.Ser1987Ter
XM_005266338.1:c.5986_5987insGATTAAAC	XP_005266395.1:p.Ser1996Ter
XM_011535038.1:c.6010_6011insGATTAAAC	XP_011533340.1:p.Ser2004Ter
XM_011535039.1:c.5977_5978insGATTAAAC	XP_011533341.1:p.Ser1993Ter
XM_005266338.2:c.5986_5987insGATTAAAC	XP_005266395.1:p.Ser1996Ter
XM_011535039.2:c.5977_5978insGATTAAAC	XP_011533341.1:p.Ser1993Ter
XM_017020539.1:c.5950_5951insGATTAAAC	XP_016876028.1:p.Ser1984Ter
XM_024449337.1:c.5986_5987insGATTAAAC	XP_024305105.1:p.Ser1996Ter
NM_014363.6:c.5959_5960insGATTAAAC MANE Select	NP_055178.3:p.Ser1987Ter
NM_001278055.2:c.5518_5519insGATTAAAC	NP_001264984.1:p.Ser1840Ter