Canonical Allele Identifier: CA2622328958

Gene: SACS

Linked Data

• gnomAD v4: 13-23335076-A-AAG

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335077_23335078insGA , CM000675.2:g.23335077_23335078insGA	GRCh38
NC_000013.10:g.23909216_23909217insGA , CM000675.1:g.23909216_23909217insGA	GRCh37
NC_000013.9:g.22807216_22807217insGA	NCBI36
NG_012342.1:g.103626_103627insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18708_2185+18709insCT	ENSP00000508399.1:n.2185+18708_2185+18709insCT
ENST00000682944.1:c.8826_8827insCT	ENSP00000507173.1:p.Phe2943LeufsTer20
ENST00000683210.1:c.2185+18708_2185+18709insCT	ENSP00000506739.1:n.2185+18708_2185+18709insCT
ENST00000683270.1:c.6445+2345_6445+2346insCT	ENSP00000507624.1:n.6445+2345_6445+2346insCT
ENST00000683367.1:c.2177-5593_2177-5592insCT	ENSP00000507780.1:n.2177-5593_2177-5592insCT
ENST00000683489.1:c.2292-5125_2292-5124insCT	ENSP00000508403.1:n.2292-5125_2292-5124insCT
ENST00000683680.1:c.2319-5125_2319-5124insCT	ENSP00000507223.1:n.2319-5125_2319-5124insCT
ENST00000684163.1:c.2204-5593_2204-5592insCT	ENSP00000508262.1:n.2204-5593_2204-5592insCT
ENST00000684196.1:n.4543-5593_4543-5592insCT
ENST00000684325.1:c.2186-13403_2186-13402insCT	ENSP00000508121.1:n.2186-13403_2186-13402insCT
ENST00000684385.1:c.2221-5593_2221-5592insCT	ENSP00000507855.1:n.2221-5593_2221-5592insCT
ENST00000684497.1:c.2186-12433_2186-12432insCT	ENSP00000507057.1:n.2186-12433_2186-12432insCT
ENST00000382292.9:c.8799_8800insCT MANE Select	ENSP00000371729.3:p.Phe2934LeufsTer20
ENST00000423156.2:c.2186-5593_2186-5592insCT	ENSP00000390925.2:n.2186-5593_2186-5592insCT
ENST00000455470.6:c.2432-5593_2432-5592insCT	ENSP00000406565.2:n.2432-5593_2432-5592insCT
ENST00000382292.7:c.8799_8800insCT	ENSP00000371729.3:p.Phe2934LeufsTer20
ENST00000382298.7:c.8799_8800insCT	ENSP00000371735.3:p.Phe2934LeufsTer20
ENST00000402364.1:c.6549_6550insCT	ENSP00000385844.1:p.Phe2184LeufsTer20
ENST00000423156.1:c.1058-5593_1058-5592insCT	ENSP00000390925.1:n.1058-5593_1058-5592insCT
ENST00000455470.5:c.2130-5593_2130-5592insCT
NM_001278055.1:c.8358_8359insCT	NP_001264984.1:p.Phe2787LeufsTer20
NM_014363.5:c.8799_8800insCT	NP_055178.3:p.Phe2934LeufsTer20
XM_005266338.1:c.8826_8827insCT	XP_005266395.1:p.Phe2943LeufsTer20
XM_011535038.1:c.8850_8851insCT	XP_011533340.1:p.Phe2951LeufsTer20
XM_011535039.1:c.8817_8818insCT	XP_011533341.1:p.Phe2940LeufsTer20
XM_005266338.2:c.8826_8827insCT	XP_005266395.1:p.Phe2943LeufsTer20
XM_011535039.2:c.8817_8818insCT	XP_011533341.1:p.Phe2940LeufsTer20
XM_017020539.1:c.8790_8791insCT	XP_016876028.1:p.Phe2931LeufsTer20
XM_024449337.1:c.8826_8827insCT	XP_024305105.1:p.Phe2943LeufsTer20
NM_014363.6:c.8799_8800insCT MANE Select	NP_055178.3:p.Phe2934LeufsTer20
NM_001278055.2:c.8358_8359insCT	NP_001264984.1:p.Phe2787LeufsTer20