Canonical Allele Identifier: CA2078623422

Gene: SACS

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23335473_23335488delinsTTGTTGAACTGGTATG , CM000675.2:g.23335473_23335488delinsTTGTTGAACTGGTATG	GRCh38
NC_000013.10:g.23909612_23909627delinsTTGTTGAACTGGTATG , CM000675.1:g.23909612_23909627delinsTTGTTGAACTGGTATG	GRCh37
NC_000013.9:g.22807612_22807627delinsTTGTTGAACTGGTATG	NCBI36
NG_012342.1:g.103215_103230delinsCATACCAGTTCAACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+18297_2185+18312delinsCATACCAGTTCAACAA	ENSP00000508399.1:n.2185+18297_2185+18312delinsCATACCAGTTCAAC...
ENST00000682944.1:c.8415_8430delinsCATACCAGTTCAACAA	ENSP00000507173.1:p.Asp2805=
ENST00000683210.1:c.2185+18297_2185+18312delinsCATACCAGTTCAACAA	ENSP00000506739.1:n.2185+18297_2185+18312delinsCATACCAGTTCAAC...
ENST00000683270.1:c.6445+1934_6445+1949delinsCATACCAGTTCAACAA	ENSP00000507624.1:n.6445+1934_6445+1949delinsCATACCAGTTCAACAA...
ENST00000683367.1:c.2177-6004_2177-5989delinsCATACCAGTTCAACAA	ENSP00000507780.1:n.2177-6004_2177-5989delinsCATACCAGTTCAACAA...
ENST00000683489.1:c.2292-5536_2292-5521delinsCATACCAGTTCAACAA	ENSP00000508403.1:n.2292-5536_2292-5521delinsCATACCAGTTCAACAA...
ENST00000683680.1:c.2319-5536_2319-5521delinsCATACCAGTTCAACAA	ENSP00000507223.1:n.2319-5536_2319-5521delinsCATACCAGTTCAACAA...
ENST00000684163.1:c.2204-6004_2204-5989delinsCATACCAGTTCAACAA	ENSP00000508262.1:n.2204-6004_2204-5989delinsCATACCAGTTCAACAA...
ENST00000684196.1:n.4543-6004_4543-5989delinsCATACCAGTTCAACAA
ENST00000684325.1:c.2186-13814_2186-13799delinsCATACCAGTTCAACAA	ENSP00000508121.1:n.2186-13814_2186-13799delinsCATACCAGTTCAAC...
ENST00000684385.1:c.2221-6004_2221-5989delinsCATACCAGTTCAACAA	ENSP00000507855.1:n.2221-6004_2221-5989delinsCATACCAGTTCAACAA...
ENST00000684497.1:c.2186-12844_2186-12829delinsCATACCAGTTCAACAA	ENSP00000507057.1:n.2186-12844_2186-12829delinsCATACCAGTTCAAC...
ENST00000382292.9:c.8388_8403delinsCATACCAGTTCAACAA MANE Select	ENSP00000371729.3:p.Asp2796=
ENST00000423156.2:c.2186-6004_2186-5989delinsCATACCAGTTCAACAA	ENSP00000390925.2:n.2186-6004_2186-5989delinsCATACCAGTTCAACAA...
ENST00000455470.6:c.2431+5957_2431+5972delinsCATACCAGTTCAACAA	ENSP00000406565.2:n.2431+5957_2431+5972delinsCATACCAGTTCAACAA...
ENST00000382292.7:c.8388_8403delinsCATACCAGTTCAACAA	ENSP00000371729.3:p.Asp2796=
ENST00000382298.7:c.8388_8403delinsCATACCAGTTCAACAA	ENSP00000371735.3:p.Asp2796=
ENST00000402364.1:c.6138_6153delinsCATACCAGTTCAACAA	ENSP00000385844.1:p.Asp2046=
ENST00000423156.1:c.1058-6004_1058-5989delinsCATACCAGTTCAACAA	ENSP00000390925.1:n.1058-6004_1058-5989delinsCATACCAGTTCAACAA...
ENST00000455470.5:c.2129+5957_2129+5972delinsCATACCAGTTCAACAA
NM_001278055.1:c.7947_7962delinsCATACCAGTTCAACAA	NP_001264984.1:p.Asp2649=
NM_014363.5:c.8388_8403delinsCATACCAGTTCAACAA	NP_055178.3:p.Asp2796=
XM_005266338.1:c.8415_8430delinsCATACCAGTTCAACAA	XP_005266395.1:p.Asp2805=
XM_011535038.1:c.8439_8454delinsCATACCAGTTCAACAA	XP_011533340.1:p.Asp2813=
XM_011535039.1:c.8406_8421delinsCATACCAGTTCAACAA	XP_011533341.1:p.Asp2802=
XM_005266338.2:c.8415_8430delinsCATACCAGTTCAACAA	XP_005266395.1:p.Asp2805=
XM_011535039.2:c.8406_8421delinsCATACCAGTTCAACAA	XP_011533341.1:p.Asp2802=
XM_017020539.1:c.8379_8394delinsCATACCAGTTCAACAA	XP_016876028.1:p.Asp2793=
XM_024449337.1:c.8415_8430delinsCATACCAGTTCAACAA	XP_024305105.1:p.Asp2805=
NM_014363.6:c.8388_8403delinsCATACCAGTTCAACAA MANE Select	NP_055178.3:p.Asp2796=
NM_001278055.2:c.7947_7962delinsCATACCAGTTCAACAA	NP_001264984.1:p.Asp2649=