Canonical Allele Identifier: CA1981067951

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473216_70473219delinsGAGA , CM000673.2:g.70473216_70473219delinsGAGA	GRCh38
NC_000011.9:g.70319321_70319324delinsGAGA , CM000673.1:g.70319321_70319324delinsGAGA	GRCh37
NC_000011.8:g.69996969_69996972delinsGAGA	NCBI36
NG_042866.1:g.656578_656581delinsTCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3433_3436delinsTCTC	ENSP00000345193.7:p.Ser1145=
ENST00000412252.6:c.978_981delinsTCTC	ENSP00000414876.2:n.978_981delinsTCTC
ENST00000601538.6:c.5200_5203delinsTCTC MANE Select	ENSP00000469689.2:p.Ser1734=
ENST00000654939.1:c.2709_2712delinsTCTC
ENST00000656230.1:c.4063_4066delinsTCTC	ENSP00000499561.1:p.Ser1355=
ENST00000659264.1:c.3490_3493delinsTCTC	ENSP00000499270.1:p.Ser1164=
ENST00000338508.8:c.3436_3439delinsTCTC	ENSP00000345193.6:p.Ser1146=
ENST00000357171.7:c.*204_*207delinsTCTC	ENSP00000349694.4:n.*204_*207delinsTCTC
ENST00000409161.5:c.3412_3415delinsTCTC	ENSP00000386491.1:p.Ser1138=
ENST00000412252.5:c.976_979delinsTCTC
ENST00000423696.6:c.4063_4066delinsTCTC	ENSP00000394536.2:p.Ser1355=
ENST00000424924.5:c.3037_3040delinsTCTC	ENSP00000402944.1:p.Ser1013=
ENST00000449833.6:c.3436_3439delinsTCTC	ENSP00000399423.3:p.Ser1146=
ENST00000601538.5:c.5200_5203delinsTCTC	ENSP00000469689.2:p.Ser1734=
ENST00000606715.3:n.1952_1955delinsTCTC
NM_012309.4:c.5200_5203delinsTCTC	NP_036441.2:p.Ser1734=
NM_133266.4:c.3436_3439delinsTCTC	NP_573573.2:p.Ser1146=
NR_110766.1:n.1054_1057delinsTCTC
XM_005277930.2:c.5200_5203delinsTCTC	XP_005277987.1:p.Ser1734=
XM_005277932.2:c.4063_4066delinsTCTC	XP_005277989.1:p.Ser1355=
XM_006718478.2:c.5170_5173delinsTCTC	XP_006718541.1:p.Ser1724=
XM_011544854.1:c.5212_5215delinsTCTC	XP_011543156.1:p.Ser1738=
XM_011544855.1:c.5191_5194delinsTCTC	XP_011543157.1:p.Ser1731=
XM_011544856.1:c.5185_5188delinsTCTC	XP_011543158.1:p.Ser1729=
XM_011544857.1:c.5164_5167delinsTCTC	XP_011543159.1:p.Ser1722=
XM_011544859.1:c.4075_4078delinsTCTC	XP_011543161.1:p.Ser1359=
XM_005277932.3:c.4063_4066delinsTCTC	XP_005277989.1:p.Ser1355=
XM_017017387.1:c.5200_5203delinsTCTC	XP_016872876.1:p.Ser1734=
XM_017017388.1:c.5200_5203delinsTCTC	XP_016872877.1:p.Ser1734=
XM_017017389.1:c.5173_5176delinsTCTC	XP_016872878.1:p.Ser1725=
XM_017017390.1:c.3490_3493delinsTCTC	XP_016872879.1:p.Ser1164=
NM_133266.5:c.3436_3439delinsTCTC	NP_573573.2:p.Ser1146=
NR_110766.2:n.1055_1058delinsTCTC
NM_001379226.1:c.4063_4066delinsTCTC	NP_001366155.1:p.Ser1355=
NM_012309.5:c.5200_5203delinsTCTC MANE Select	NP_036441.2:p.Ser1734=