Canonical Allele Identifier: CA645591577

Gene: SACS

Linked Data

• COSMIC: COSM4765663 ; COSM4765664

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23330984_23330985insT , CM000675.2:g.23330984_23330985insT	GRCh38
NC_000013.10:g.23905123_23905124insT , CM000675.1:g.23905123_23905124insT	GRCh37
NC_000013.9:g.22803123_22803124insT	NCBI36
NG_012342.1:g.107718_107719insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2186-18870_2186-18869insA	ENSP00000508399.1:n.2186-18870_2186-18869...
ENST00000682944.1:c.12918_12919insA	ENSP00000507173.1:p.Leu4307ThrfsTer2
ENST00000683210.1:c.2185+22800_2185+22801insA	ENSP00000506739.1:n.2185+22800_2185+22801...
ENST00000683270.1:c.6446-1501_6446-1500insA	ENSP00000507624.1:n.6446-1501_6446-1500in...
ENST00000683367.1:c.2177-1501_2177-1500insA	ENSP00000507780.1:n.2177-1501_2177-1500in...
ENST00000683489.1:c.2292-1033_2292-1032insA	ENSP00000508403.1:n.2292-1033_2292-1032in...
ENST00000683680.1:c.2319-1033_2319-1032insA	ENSP00000507223.1:n.2319-1033_2319-1032in...
ENST00000684163.1:c.2204-1501_2204-1500insA	ENSP00000508262.1:n.2204-1501_2204-1500in...
ENST00000684196.1:n.4543-1501_4543-1500insA
ENST00000684325.1:c.2186-9311_2186-9310insA	ENSP00000508121.1:n.2186-9311_2186-9310in...
ENST00000684385.1:c.2221-1501_2221-1500insA	ENSP00000507855.1:n.2221-1501_2221-1500in...
ENST00000684497.1:c.2186-8341_2186-8340insA	ENSP00000507057.1:n.2186-8341_2186-8340in...
ENST00000382292.9:c.12891_12892insA MANE Select	ENSP00000371729.3:p.Leu4298ThrfsTer2
ENST00000423156.2:c.2186-1501_2186-1500insA	ENSP00000390925.2:n.2186-1501_2186-1500in...
ENST00000455470.6:c.2432-1501_2432-1500insA	ENSP00000406565.2:n.2432-1501_2432-1500in...
ENST00000382292.7:c.12891_12892insA	ENSP00000371729.3:p.Leu4298ThrfsTer2
ENST00000382298.7:c.12891_12892insA	ENSP00000371735.3:p.Leu4298ThrfsTer2
ENST00000402364.1:c.10641_10642insA	ENSP00000385844.1:p.Leu3548ThrfsTer2
ENST00000423156.1:c.1058-1501_1058-1500insA	ENSP00000390925.1:n.1058-1501_1058-1500in...
ENST00000455470.5:c.2130-1501_2130-1500insA
NM_001278055.1:c.12450_12451insA	NP_001264984.1:p.Leu4151ThrfsTer2
NM_014363.5:c.12891_12892insA	NP_055178.3:p.Leu4298ThrfsTer2
XM_005266338.1:c.12918_12919insA	XP_005266395.1:p.Leu4307ThrfsTer2
XM_011535038.1:c.12942_12943insA	XP_011533340.1:p.Leu4315ThrfsTer2
XM_011535039.1:c.12909_12910insA	XP_011533341.1:p.Leu4304ThrfsTer2
XM_005266338.2:c.12918_12919insA	XP_005266395.1:p.Leu4307ThrfsTer2
XM_011535039.2:c.12909_12910insA	XP_011533341.1:p.Leu4304ThrfsTer2
XM_017020539.1:c.12882_12883insA	XP_016876028.1:p.Leu4295ThrfsTer2
XM_024449337.1:c.12918_12919insA	XP_024305105.1:p.Leu4307ThrfsTer2
NM_014363.6:c.12891_12892insA MANE Select	NP_055178.3:p.Leu4298ThrfsTer2
NM_001278055.2:c.12450_12451insA	NP_001264984.1:p.Leu4151ThrfsTer2