Canonical Allele Identifier: CA2792603934

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486012_70486020dup , CM000673.2:g.70486012_70486020dup	GRCh38
NC_000011.9:g.70332117_70332125dup , CM000673.1:g.70332117_70332125dup	GRCh37
NC_000011.8:g.70009765_70009773dup	NCBI36
NG_042866.1:g.643778_643786dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2507_2515dup	ENSP00000345193.7:p.Arg838_Ala839insAspAspArg
ENST00000412252.6:c.757+4284_757+4292dup	ENSP00000414876.2:n.757+4284_757+4292dup
ENST00000601538.6:c.4274_4282dup MANE Select	ENSP00000469689.2:p.Arg1427_Ala1428insAspAspArg
ENST00000654939.1:c.1702_1710dup
ENST00000656230.1:c.3137_3145dup	ENSP00000499561.1:p.Arg1048_Ala1049insAspAspArg
ENST00000659264.1:c.2564_2572dup	ENSP00000499270.1:p.Arg857_Ala858insAspAspArg
ENST00000338508.8:c.2510_2518dup	ENSP00000345193.6:p.Arg839_Ala840insAspAspArg
ENST00000357171.7:c.718+4284_718+4292dup	ENSP00000349694.4:n.718+4284_718+4292dup
ENST00000409161.5:c.2486_2494dup	ENSP00000386491.1:p.Arg831_Ala832insAspAspArg
ENST00000412252.5:c.755+4284_755+4292dup
ENST00000423696.6:c.3137_3145dup	ENSP00000394536.2:p.Arg1048_Ala1049insAspAspArg
ENST00000424924.5:c.2111_2119dup	ENSP00000402944.1:p.Arg706_Ala707insAspAspArg
ENST00000449833.6:c.2510_2518dup	ENSP00000399423.3:p.Arg839_Ala840insAspAspArg
ENST00000601538.5:c.4274_4282dup	ENSP00000469689.2:p.Arg1427_Ala1428insAspAspArg
NM_012309.4:c.4274_4282dup	NP_036441.2:p.Arg1427_Ala1428insAspAspArg
NM_133266.4:c.2510_2518dup	NP_573573.2:p.Arg839_Ala840insAspAspArg
NR_110766.1:n.833+4284_833+4292dup
XM_005277930.2:c.4274_4282dup	XP_005277987.1:p.Arg1427_Ala1428insAspAspArg
XM_005277932.2:c.3137_3145dup	XP_005277989.1:p.Arg1048_Ala1049insAspAspArg
XM_006718478.2:c.4244_4252dup	XP_006718541.1:p.Arg1417_Ala1418insAspAspArg
XM_011544854.1:c.4286_4294dup	XP_011543156.1:p.Arg1431_Ala1432insAspAspArg
XM_011544855.1:c.4265_4273dup	XP_011543157.1:p.Arg1424_Ala1425insAspAspArg
XM_011544856.1:c.4259_4267dup	XP_011543158.1:p.Arg1422_Ala1423insAspAspArg
XM_011544857.1:c.4238_4246dup	XP_011543159.1:p.Arg1415_Ala1416insAspAspArg
XM_011544858.1:c.4286_4294dup	XP_011543160.1:p.Arg1431_Ala1432insAspAspArg
XM_011544859.1:c.3149_3157dup	XP_011543161.1:p.Arg1052_Ala1053insAspAspArg
XM_005277932.3:c.3137_3145dup	XP_005277989.1:p.Arg1048_Ala1049insAspAspArg
XM_017017387.1:c.4274_4282dup	XP_016872876.1:p.Arg1427_Ala1428insAspAspArg
XM_017017388.1:c.4274_4282dup	XP_016872877.1:p.Arg1427_Ala1428insAspAspArg
XM_017017389.1:c.4247_4255dup	XP_016872878.1:p.Arg1418_Ala1419insAspAspArg
XM_017017390.1:c.2564_2572dup	XP_016872879.1:p.Arg857_Ala858insAspAspArg
NM_133266.5:c.2510_2518dup	NP_573573.2:p.Arg839_Ala840insAspAspArg
NR_110766.2:n.834+4284_834+4292dup
NM_001379226.1:c.3137_3145dup	NP_001366155.1:p.Arg1048_Ala1049insAspAspArg
NM_012309.5:c.4274_4282dup MANE Select	NP_036441.2:p.Arg1427_Ala1428insAspAspArg