Canonical Allele Identifier: CA2590153059

Gene: SACS

Linked Data

• gnomAD v3: 13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 13-23341780-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23341806_23341807insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000675.2:g.23341806_23341807insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000013.10:g.23915945_23915946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000675.1:g.23915945_23915946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000013.9:g.22813945_22813946insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_012342.1:g.96922_96923insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000508399.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA...
ENST00000682944.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507173.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000683210.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000506739.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA...
ENST00000683270.1:c.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507624.1:n.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000683367.1:c.2176+12004_2176+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507780.1:n.2176+12004_2176+12005insAAAAAAAAAAAAAAAAA...
ENST00000683489.1:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000508403.1:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000683680.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507223.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000684163.1:c.2203+5030_2203+5031insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000508262.1:n.2203+5030_2203+5031insAAAAAAAAAAAAAAAAAAA...
ENST00000684196.1:n.4542+12004_4542+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ENST00000684325.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000508121.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA...
ENST00000684385.1:c.2220+5030_2220+5031insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507855.1:n.2220+5030_2220+5031insAAAAAAAAAAAAAAAAAAA...
ENST00000684497.1:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000507057.1:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA...
ENST00000382292.9:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000371729.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000423156.2:c.2185+12004_2185+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000390925.2:n.2185+12004_2185+12005insAAAAAAAAAAAAAAAAA...
ENST00000455470.6:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000406565.2:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000382292.7:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000371729.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000382298.7:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000371735.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000402364.1:c.-65-91_-65-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000385844.1:n.-65-91_-65-90insAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000423156.1:c.1057+12004_1057+12005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000390925.1:n.1057+12004_1057+12005insAAAAAAAAAAAAAAAAA...
ENST00000455470.5:c.1884-91_1884-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NM_001278055.1:c.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001264984.1:n.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_014363.5:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_055178.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005266338.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005266395.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011535038.1:c.2237-91_2237-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011533340.1:n.2237-91_2237-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011535039.1:c.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011533341.1:n.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_005266338.2:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_005266395.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_011535039.2:c.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_011533341.1:n.2204-91_2204-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017020539.1:c.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016876028.1:n.2177-91_2177-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
XM_024449337.1:c.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_024305105.1:n.2213-91_2213-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_014363.6:c.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_055178.3:n.2186-91_2186-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_001278055.2:c.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001264984.1:n.1745-91_1745-90insAAAAAAAAAAAAAAAAAAAAAAAAAA...