Canonical Allele Identifier: CA2622328905

Gene: SACS

Linked Data

• gnomAD v4: 13-23333975-G-GAACATCTCCTTCAGGAACCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23333978_23333998dup , CM000675.2:g.23333978_23333998dup	GRCh38
NC_000013.10:g.23908117_23908137dup , CM000675.1:g.23908117_23908137dup	GRCh37
NC_000013.9:g.22806117_22806137dup	NCBI36
NG_012342.1:g.104707_104727dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+19789_2185+19809dup	ENSP00000508399.1:n.2185+19789_2185+19809...
ENST00000682944.1:c.9907_9927dup	ENSP00000507173.1:p.Val3309_Leu3310insVal...
ENST00000683210.1:c.2185+19789_2185+19809dup	ENSP00000506739.1:n.2185+19789_2185+19809...
ENST00000683270.1:c.6445+3426_6445+3446dup	ENSP00000507624.1:n.6445+3426_6445+3446du...
ENST00000683367.1:c.2177-4512_2177-4492dup	ENSP00000507780.1:n.2177-4512_2177-4492du...
ENST00000683489.1:c.2292-4044_2292-4024dup	ENSP00000508403.1:n.2292-4044_2292-4024du...
ENST00000683680.1:c.2319-4044_2319-4024dup	ENSP00000507223.1:n.2319-4044_2319-4024du...
ENST00000684163.1:c.2204-4512_2204-4492dup	ENSP00000508262.1:n.2204-4512_2204-4492du...
ENST00000684196.1:n.4543-4512_4543-4492dup
ENST00000684325.1:c.2186-12322_2186-12302dup	ENSP00000508121.1:n.2186-12322_2186-12302...
ENST00000684385.1:c.2221-4512_2221-4492dup	ENSP00000507855.1:n.2221-4512_2221-4492du...
ENST00000684497.1:c.2186-11352_2186-11332dup	ENSP00000507057.1:n.2186-11352_2186-11332...
ENST00000382292.9:c.9880_9900dup MANE Select	ENSP00000371729.3:p.Val3300_Leu3301insVal...
ENST00000423156.2:c.2186-4512_2186-4492dup	ENSP00000390925.2:n.2186-4512_2186-4492du...
ENST00000455470.6:c.2432-4512_2432-4492dup	ENSP00000406565.2:n.2432-4512_2432-4492du...
ENST00000382292.7:c.9880_9900dup	ENSP00000371729.3:p.Val3300_Leu3301insVal...
ENST00000382298.7:c.9880_9900dup	ENSP00000371735.3:p.Val3300_Leu3301insVal...
ENST00000402364.1:c.7630_7650dup	ENSP00000385844.1:p.Val2550_Leu2551insVal...
ENST00000423156.1:c.1058-4512_1058-4492dup	ENSP00000390925.1:n.1058-4512_1058-4492du...
ENST00000455470.5:c.2130-4512_2130-4492dup
NM_001278055.1:c.9439_9459dup	NP_001264984.1:p.Val3153_Leu3154insValVal...
NM_014363.5:c.9880_9900dup	NP_055178.3:p.Val3300_Leu3301insValValPro...
XM_005266338.1:c.9907_9927dup	XP_005266395.1:p.Val3309_Leu3310insValVal...
XM_011535038.1:c.9931_9951dup	XP_011533340.1:p.Val3317_Leu3318insValVal...
XM_011535039.1:c.9898_9918dup	XP_011533341.1:p.Val3306_Leu3307insValVal...
XM_005266338.2:c.9907_9927dup	XP_005266395.1:p.Val3309_Leu3310insValVal...
XM_011535039.2:c.9898_9918dup	XP_011533341.1:p.Val3306_Leu3307insValVal...
XM_017020539.1:c.9871_9891dup	XP_016876028.1:p.Val3297_Leu3298insValVal...
XM_024449337.1:c.9907_9927dup	XP_024305105.1:p.Val3309_Leu3310insValVal...
NM_014363.6:c.9880_9900dup MANE Select	NP_055178.3:p.Val3300_Leu3301insValValPro...
NM_001278055.2:c.9439_9459dup	NP_001264984.1:p.Val3153_Leu3154insValVal...