Canonical Allele Identifier: CA954041339

Gene: SACS

Linked Data

• gnomAD v3: 13-23338000-A-ACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC
• gnomAD v4: 13-23338000-A-ACCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23338000_23338001insCCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC , CM000675.2:g.23338000_23338001insCCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC	GRCh38
NC_000013.10:g.23912139_23912140insCCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC , CM000675.1:g.23912139_23912140insCCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC	GRCh37
NC_000013.9:g.22810139_22810140insCCCAAGTAGATCCATCAGAGAAGACTTTGGTCAGTTC	NCBI36
NG_012342.1:g.100702_100703insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000682775.1:c.2185+15784_2185+15785insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000508399.1:n.2185+15784_2185+15785...
ENST00000682944.1:c.5902_5903insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507173.1:p.Ile1968ArgfsTer8
ENST00000683210.1:c.2185+15784_2185+15785insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000506739.1:n.2185+15784_2185+15785...
ENST00000683270.1:c.5866_5867insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507624.1:p.Ile1956ArgfsTer8
ENST00000683367.1:c.2177-8517_2177-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507780.1:n.2177-8517_2177-8516in...
ENST00000683489.1:c.2291+3584_2291+3585insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000508403.1:n.2291+3584_2291+3585in...
ENST00000683680.1:c.2318+3584_2318+3585insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507223.1:n.2318+3584_2318+3585in...
ENST00000684163.1:c.2204-8517_2204-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000508262.1:n.2204-8517_2204-8516in...
ENST00000684196.1:n.4543-8517_4543-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG
ENST00000684325.1:c.2185+15784_2185+15785insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000508121.1:n.2185+15784_2185+15785...
ENST00000684385.1:c.2221-8517_2221-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507855.1:n.2221-8517_2221-8516in...
ENST00000684497.1:c.2186-15357_2186-15356insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000507057.1:n.2186-15357_2186-15356...
ENST00000382292.9:c.5875_5876insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG MANE Select	ENSP00000371729.3:p.Ile1959ArgfsTer8
ENST00000423156.2:c.2186-8517_2186-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000390925.2:n.2186-8517_2186-8516in...
ENST00000455470.6:c.2431+3444_2431+3445insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000406565.2:n.2431+3444_2431+3445in...
ENST00000382292.7:c.5875_5876insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000371729.3:p.Ile1959ArgfsTer8
ENST00000382298.7:c.5875_5876insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000371735.3:p.Ile1959ArgfsTer8
ENST00000402364.1:c.3625_3626insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000385844.1:p.Ile1209ArgfsTer8
ENST00000423156.1:c.1058-8517_1058-8516insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	ENSP00000390925.1:n.1058-8517_1058-8516in...
ENST00000455470.5:c.2129+3444_2129+3445insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG
NM_001278055.1:c.5434_5435insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	NP_001264984.1:p.Ile1812ArgfsTer8
NM_014363.5:c.5875_5876insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	NP_055178.3:p.Ile1959ArgfsTer8
XM_005266338.1:c.5902_5903insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_005266395.1:p.Ile1968ArgfsTer8
XM_011535038.1:c.5926_5927insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_011533340.1:p.Ile1976ArgfsTer8
XM_011535039.1:c.5893_5894insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_011533341.1:p.Ile1965ArgfsTer8
XM_005266338.2:c.5902_5903insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_005266395.1:p.Ile1968ArgfsTer8
XM_011535039.2:c.5893_5894insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_011533341.1:p.Ile1965ArgfsTer8
XM_017020539.1:c.5866_5867insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_016876028.1:p.Ile1956ArgfsTer8
XM_024449337.1:c.5902_5903insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	XP_024305105.1:p.Ile1968ArgfsTer8
NM_014363.6:c.5875_5876insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG MANE Select	NP_055178.3:p.Ile1959ArgfsTer8
NM_001278055.2:c.5434_5435insGAACTGACCAAAGTCTTCTCTGATGGATCTACTTGGG	NP_001264984.1:p.Ile1812ArgfsTer8