Canonical Allele Identifier: CA2542489475

Gene: SACS

Linked Data

• gnomAD v4: 13-23341777-G-GTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341779_23341780insTTTT , CM000675.2:g.23341779_23341780insTTTT	GRCh38
NC_000013.10:g.23915918_23915919insTTTT , CM000675.1:g.23915918_23915919insTTTT	GRCh37
NC_000013.9:g.22813918_22813919insTTTT	NCBI36
NG_012342.1:g.96925_96926insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12007_2185+12008insAAAA	ENSP00000508399.1:n.2185+12007_2185+12008insAAAA
ENST00000682944.1:c.2213-88_2213-87insAAAA	ENSP00000507173.1:n.2213-88_2213-87insAAAA
ENST00000683210.1:c.2185+12007_2185+12008insAAAA	ENSP00000506739.1:n.2185+12007_2185+12008insAAAA
ENST00000683270.1:c.2177-88_2177-87insAAAA	ENSP00000507624.1:n.2177-88_2177-87insAAAA
ENST00000683367.1:c.2176+12007_2176+12008insAAAA	ENSP00000507780.1:n.2176+12007_2176+12008insAAAA
ENST00000683489.1:c.2186-88_2186-87insAAAA	ENSP00000508403.1:n.2186-88_2186-87insAAAA
ENST00000683680.1:c.2213-88_2213-87insAAAA	ENSP00000507223.1:n.2213-88_2213-87insAAAA
ENST00000684163.1:c.2203+5033_2203+5034insAAAA	ENSP00000508262.1:n.2203+5033_2203+5034insAAAA
ENST00000684196.1:n.4542+12007_4542+12008insAAAA
ENST00000684325.1:c.2185+12007_2185+12008insAAAA	ENSP00000508121.1:n.2185+12007_2185+12008insAAAA
ENST00000684385.1:c.2220+5033_2220+5034insAAAA	ENSP00000507855.1:n.2220+5033_2220+5034insAAAA
ENST00000684497.1:c.2185+12007_2185+12008insAAAA	ENSP00000507057.1:n.2185+12007_2185+12008insAAAA
ENST00000382292.9:c.2186-88_2186-87insAAAA MANE Select	ENSP00000371729.3:n.2186-88_2186-87insAAAA
ENST00000423156.2:c.2185+12007_2185+12008insAAAA	ENSP00000390925.2:n.2185+12007_2185+12008insAAAA
ENST00000455470.6:c.2186-88_2186-87insAAAA	ENSP00000406565.2:n.2186-88_2186-87insAAAA
ENST00000382292.7:c.2186-88_2186-87insAAAA	ENSP00000371729.3:n.2186-88_2186-87insAAAA
ENST00000382298.7:c.2186-88_2186-87insAAAA	ENSP00000371735.3:n.2186-88_2186-87insAAAA
ENST00000402364.1:c.-65-88_-65-87insAAAA	ENSP00000385844.1:n.-65-88_-65-87insAAAA
ENST00000423156.1:c.1057+12007_1057+12008insAAAA	ENSP00000390925.1:n.1057+12007_1057+12008insAAAA
ENST00000455470.5:c.1884-88_1884-87insAAAA
NM_001278055.1:c.1745-88_1745-87insAAAA	NP_001264984.1:n.1745-88_1745-87insAAAA
NM_014363.5:c.2186-88_2186-87insAAAA	NP_055178.3:n.2186-88_2186-87insAAAA
XM_005266338.1:c.2213-88_2213-87insAAAA	XP_005266395.1:n.2213-88_2213-87insAAAA
XM_011535038.1:c.2237-88_2237-87insAAAA	XP_011533340.1:n.2237-88_2237-87insAAAA
XM_011535039.1:c.2204-88_2204-87insAAAA	XP_011533341.1:n.2204-88_2204-87insAAAA
XM_005266338.2:c.2213-88_2213-87insAAAA	XP_005266395.1:n.2213-88_2213-87insAAAA
XM_011535039.2:c.2204-88_2204-87insAAAA	XP_011533341.1:n.2204-88_2204-87insAAAA
XM_017020539.1:c.2177-88_2177-87insAAAA	XP_016876028.1:n.2177-88_2177-87insAAAA
XM_024449337.1:c.2213-88_2213-87insAAAA	XP_024305105.1:n.2213-88_2213-87insAAAA
NM_014363.6:c.2186-88_2186-87insAAAA MANE Select	NP_055178.3:n.2186-88_2186-87insAAAA
NM_001278055.2:c.1745-88_1745-87insAAAA	NP_001264984.1:n.1745-88_1745-87insAAAA