Canonical Allele Identifier: CA1981314419

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71083335_71083338delinsCAAT , CM000673.2:g.71083335_71083338delinsCAAT	GRCh38
NG_042866.1:g.146459_146462delinsATTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.913-8063_913-8060delinsATTG MANE Select	ENSP00000469689.2:n.913-8063_913-8060deli...
ENST00000458632.2:c.321-8063_321-8060delinsATTG
ENST00000601538.5:c.913-8063_913-8060delinsATTG	ENSP00000469689.2:n.913-8063_913-8060deli...
ENST00000608988.5:c.*476-8063_*476-8060delinsATTG	ENSP00000476264.2:n.*476-8063_*476-8060de...
ENST00000618363.4:c.57-8063_57-8060delinsATTG
NM_012309.4:c.913-8063_913-8060delinsATTG	NP_036441.2:n.913-8063_913-8060delinsATTG...
XM_005277930.2:c.913-8063_913-8060delinsATTG	XP_005277987.1:n.913-8063_913-8060delinsA...
XM_006718478.2:c.913-8063_913-8060delinsATTG	XP_006718541.1:n.913-8063_913-8060delinsA...
XM_011544854.1:c.913-8063_913-8060delinsATTG	XP_011543156.1:n.913-8063_913-8060delinsA...
XM_011544855.1:c.913-8063_913-8060delinsATTG	XP_011543157.1:n.913-8063_913-8060delinsA...
XM_011544856.1:c.913-8063_913-8060delinsATTG	XP_011543158.1:n.913-8063_913-8060delinsA...
XM_011544857.1:c.913-8063_913-8060delinsATTG	XP_011543159.1:n.913-8063_913-8060delinsA...
XM_011544858.1:c.913-8063_913-8060delinsATTG	XP_011543160.1:n.913-8063_913-8060delinsA...
XM_017017387.1:c.913-8063_913-8060delinsATTG	XP_016872876.1:n.913-8063_913-8060delinsA...
XM_017017388.1:c.913-8063_913-8060delinsATTG	XP_016872877.1:n.913-8063_913-8060delinsA...
XM_017017389.1:c.913-8063_913-8060delinsATTG	XP_016872878.1:n.913-8063_913-8060delinsA...
NM_012309.5:c.913-8063_913-8060delinsATTG MANE Select	NP_036441.2:n.913-8063_913-8060delinsATTG...