Canonical Allele Identifier: CA1981068095

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473508_70473509delinsAC , CM000673.2:g.70473508_70473509delinsAC	GRCh38
NC_000011.9:g.70319613_70319614delinsAC , CM000673.1:g.70319613_70319614delinsAC	GRCh37
NC_000011.8:g.69997261_69997262delinsAC	NCBI36
NG_042866.1:g.656288_656289delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-70_3213-69delinsGT	ENSP00000345193.7:n.3213-70_3213-69delinsGT
ENST00000412252.6:c.758-70_758-69delinsGT	ENSP00000414876.2:n.758-70_758-69delinsGT
ENST00000601538.6:c.4980-70_4980-69delinsGT MANE Select	ENSP00000469689.2:n.4980-70_4980-69delinsGT
ENST00000654939.1:c.2489-70_2489-69delinsGT
ENST00000656230.1:c.3843-70_3843-69delinsGT	ENSP00000499561.1:n.3843-70_3843-69delinsGT
ENST00000659264.1:c.3270-70_3270-69delinsGT	ENSP00000499270.1:n.3270-70_3270-69delinsGT
ENST00000338508.8:c.3216-70_3216-69delinsGT	ENSP00000345193.6:n.3216-70_3216-69delinsGT
ENST00000357171.7:c.719-70_719-69delinsGT	ENSP00000349694.4:n.719-70_719-69delinsGT
ENST00000409161.5:c.3192-70_3192-69delinsGT	ENSP00000386491.1:n.3192-70_3192-69delinsGT
ENST00000412252.5:c.756-70_756-69delinsGT
ENST00000423696.6:c.3843-70_3843-69delinsGT	ENSP00000394536.2:n.3843-70_3843-69delinsGT
ENST00000424924.5:c.2817-70_2817-69delinsGT	ENSP00000402944.1:n.2817-70_2817-69delinsGT
ENST00000449833.6:c.3216-70_3216-69delinsGT	ENSP00000399423.3:n.3216-70_3216-69delinsGT
ENST00000601538.5:c.4980-70_4980-69delinsGT	ENSP00000469689.2:n.4980-70_4980-69delinsGT
ENST00000606715.3:n.1662_1663delinsGT
NM_012309.4:c.4980-70_4980-69delinsGT	NP_036441.2:n.4980-70_4980-69delinsGT
NM_133266.4:c.3216-70_3216-69delinsGT	NP_573573.2:n.3216-70_3216-69delinsGT
NR_110766.1:n.834-70_834-69delinsGT
XM_005277930.2:c.4980-70_4980-69delinsGT	XP_005277987.1:n.4980-70_4980-69delinsGT
XM_005277932.2:c.3843-70_3843-69delinsGT	XP_005277989.1:n.3843-70_3843-69delinsGT
XM_006718478.2:c.4950-70_4950-69delinsGT	XP_006718541.1:n.4950-70_4950-69delinsGT
XM_011544854.1:c.4992-70_4992-69delinsGT	XP_011543156.1:n.4992-70_4992-69delinsGT
XM_011544855.1:c.4971-70_4971-69delinsGT	XP_011543157.1:n.4971-70_4971-69delinsGT
XM_011544856.1:c.4965-70_4965-69delinsGT	XP_011543158.1:n.4965-70_4965-69delinsGT
XM_011544857.1:c.4944-70_4944-69delinsGT	XP_011543159.1:n.4944-70_4944-69delinsGT
XM_011544859.1:c.3855-70_3855-69delinsGT	XP_011543161.1:n.3855-70_3855-69delinsGT
XM_005277932.3:c.3843-70_3843-69delinsGT	XP_005277989.1:n.3843-70_3843-69delinsGT
XM_017017387.1:c.4980-70_4980-69delinsGT	XP_016872876.1:n.4980-70_4980-69delinsGT
XM_017017388.1:c.4980-70_4980-69delinsGT	XP_016872877.1:n.4980-70_4980-69delinsGT
XM_017017389.1:c.4953-70_4953-69delinsGT	XP_016872878.1:n.4953-70_4953-69delinsGT
XM_017017390.1:c.3270-70_3270-69delinsGT	XP_016872879.1:n.3270-70_3270-69delinsGT
NM_133266.5:c.3216-70_3216-69delinsGT	NP_573573.2:n.3216-70_3216-69delinsGT
NR_110766.2:n.835-70_835-69delinsGT
NM_001379226.1:c.3843-70_3843-69delinsGT	NP_001366155.1:n.3843-70_3843-69delinsGT
NM_012309.5:c.4980-70_4980-69delinsGT MANE Select	NP_036441.2:n.4980-70_4980-69delinsGT