Canonical Allele Identifier: CA2798500306

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23337695_23337696insAAAAAAA , CM000675.2:g.23337695_23337696insAAAAAAA	GRCh38
NC_000013.10:g.23911834_23911835insAAAAAAA , CM000675.1:g.23911834_23911835insAAAAAAA	GRCh37
NC_000013.9:g.22809834_22809835insAAAAAAA	NCBI36
NG_012342.1:g.101013_101014insTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16095_2185+16096insTTTTTTT	ENSP00000508399.1:n.2185+16095_2185+16096insTTTTTTT
ENST00000682944.1:c.6213_6214insTTTTTTT	ENSP00000507173.1:p.Pro2072PhefsTer9
ENST00000683210.1:c.2185+16095_2185+16096insTTTTTTT	ENSP00000506739.1:n.2185+16095_2185+16096insTTTTTTT
ENST00000683270.1:c.6177_6178insTTTTTTT	ENSP00000507624.1:p.Pro2060PhefsTer9
ENST00000683367.1:c.2177-8206_2177-8205insTTTTTTT	ENSP00000507780.1:n.2177-8206_2177-8205insTTTTTTT
ENST00000683489.1:c.2291+3895_2291+3896insTTTTTTT	ENSP00000508403.1:n.2291+3895_2291+3896insTTTTTTT
ENST00000683680.1:c.2318+3895_2318+3896insTTTTTTT	ENSP00000507223.1:n.2318+3895_2318+3896insTTTTTTT
ENST00000684163.1:c.2204-8206_2204-8205insTTTTTTT	ENSP00000508262.1:n.2204-8206_2204-8205insTTTTTTT
ENST00000684196.1:n.4543-8206_4543-8205insTTTTTTT
ENST00000684325.1:c.2186-16016_2186-16015insTTTTTTT	ENSP00000508121.1:n.2186-16016_2186-16015insTTTTTTT
ENST00000684385.1:c.2221-8206_2221-8205insTTTTTTT	ENSP00000507855.1:n.2221-8206_2221-8205insTTTTTTT
ENST00000684497.1:c.2186-15046_2186-15045insTTTTTTT	ENSP00000507057.1:n.2186-15046_2186-15045insTTTTTTT
ENST00000382292.9:c.6186_6187insTTTTTTT MANE Select	ENSP00000371729.3:p.Pro2063PhefsTer9
ENST00000423156.2:c.2186-8206_2186-8205insTTTTTTT	ENSP00000390925.2:n.2186-8206_2186-8205insTTTTTTT
ENST00000455470.6:c.2431+3755_2431+3756insTTTTTTT	ENSP00000406565.2:n.2431+3755_2431+3756insTTTTTTT
ENST00000382292.7:c.6186_6187insTTTTTTT	ENSP00000371729.3:p.Pro2063PhefsTer9
ENST00000382298.7:c.6186_6187insTTTTTTT	ENSP00000371735.3:p.Pro2063PhefsTer9
ENST00000402364.1:c.3936_3937insTTTTTTT	ENSP00000385844.1:p.Pro1313PhefsTer9
ENST00000423156.1:c.1058-8206_1058-8205insTTTTTTT	ENSP00000390925.1:n.1058-8206_1058-8205insTTTTTTT
ENST00000455470.5:c.2129+3755_2129+3756insTTTTTTT
NM_001278055.1:c.5745_5746insTTTTTTT	NP_001264984.1:p.Pro1916PhefsTer9
NM_014363.5:c.6186_6187insTTTTTTT	NP_055178.3:p.Pro2063PhefsTer9
XM_005266338.1:c.6213_6214insTTTTTTT	XP_005266395.1:p.Pro2072PhefsTer9
XM_011535038.1:c.6237_6238insTTTTTTT	XP_011533340.1:p.Pro2080PhefsTer9
XM_011535039.1:c.6204_6205insTTTTTTT	XP_011533341.1:p.Pro2069PhefsTer9
XM_005266338.2:c.6213_6214insTTTTTTT	XP_005266395.1:p.Pro2072PhefsTer9
XM_011535039.2:c.6204_6205insTTTTTTT	XP_011533341.1:p.Pro2069PhefsTer9
XM_017020539.1:c.6177_6178insTTTTTTT	XP_016876028.1:p.Pro2060PhefsTer9
XM_024449337.1:c.6213_6214insTTTTTTT	XP_024305105.1:p.Pro2072PhefsTer9
NM_014363.6:c.6186_6187insTTTTTTT MANE Select	NP_055178.3:p.Pro2063PhefsTer9
NM_001278055.2:c.5745_5746insTTTTTTT	NP_001264984.1:p.Pro1916PhefsTer9