Canonical Allele Identifier: CA1981068128

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473582_70473583delinsAT , CM000673.2:g.70473582_70473583delinsAT	GRCh38
NC_000011.9:g.70319687_70319688delinsAT , CM000673.1:g.70319687_70319688delinsAT	GRCh37
NC_000011.8:g.69997335_69997336delinsAT	NCBI36
NG_042866.1:g.656214_656215delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-144_3213-143delinsAT	ENSP00000345193.7:n.3213-144_3213-143delinsAT
ENST00000412252.6:c.758-144_758-143delinsAT	ENSP00000414876.2:n.758-144_758-143delinsAT
ENST00000601538.6:c.4980-144_4980-143delinsAT MANE Select	ENSP00000469689.2:n.4980-144_4980-143delinsAT
ENST00000654939.1:c.2489-144_2489-143delinsAT
ENST00000656230.1:c.3843-144_3843-143delinsAT	ENSP00000499561.1:n.3843-144_3843-143delinsAT
ENST00000659264.1:c.3270-144_3270-143delinsAT	ENSP00000499270.1:n.3270-144_3270-143delinsAT
ENST00000338508.8:c.3216-144_3216-143delinsAT	ENSP00000345193.6:n.3216-144_3216-143delinsAT
ENST00000357171.7:c.719-144_719-143delinsAT	ENSP00000349694.4:n.719-144_719-143delinsAT
ENST00000409161.5:c.3192-144_3192-143delinsAT	ENSP00000386491.1:n.3192-144_3192-143delinsAT
ENST00000412252.5:c.756-144_756-143delinsAT
ENST00000423696.6:c.3843-144_3843-143delinsAT	ENSP00000394536.2:n.3843-144_3843-143delinsAT
ENST00000424924.5:c.2817-144_2817-143delinsAT	ENSP00000402944.1:n.2817-144_2817-143delinsAT
ENST00000449833.6:c.3216-144_3216-143delinsAT	ENSP00000399423.3:n.3216-144_3216-143delinsAT
ENST00000601538.5:c.4980-144_4980-143delinsAT	ENSP00000469689.2:n.4980-144_4980-143delinsAT
ENST00000606715.3:n.1588_1589delinsAT
NM_012309.4:c.4980-144_4980-143delinsAT	NP_036441.2:n.4980-144_4980-143delinsAT
NM_133266.4:c.3216-144_3216-143delinsAT	NP_573573.2:n.3216-144_3216-143delinsAT
NR_110766.1:n.834-144_834-143delinsAT
XM_005277930.2:c.4980-144_4980-143delinsAT	XP_005277987.1:n.4980-144_4980-143delinsAT
XM_005277932.2:c.3843-144_3843-143delinsAT	XP_005277989.1:n.3843-144_3843-143delinsAT
XM_006718478.2:c.4950-144_4950-143delinsAT	XP_006718541.1:n.4950-144_4950-143delinsAT
XM_011544854.1:c.4992-144_4992-143delinsAT	XP_011543156.1:n.4992-144_4992-143delinsAT
XM_011544855.1:c.4971-144_4971-143delinsAT	XP_011543157.1:n.4971-144_4971-143delinsAT
XM_011544856.1:c.4965-144_4965-143delinsAT	XP_011543158.1:n.4965-144_4965-143delinsAT
XM_011544857.1:c.4944-144_4944-143delinsAT	XP_011543159.1:n.4944-144_4944-143delinsAT
XM_011544859.1:c.3855-144_3855-143delinsAT	XP_011543161.1:n.3855-144_3855-143delinsAT
XM_005277932.3:c.3843-144_3843-143delinsAT	XP_005277989.1:n.3843-144_3843-143delinsAT
XM_017017387.1:c.4980-144_4980-143delinsAT	XP_016872876.1:n.4980-144_4980-143delinsAT
XM_017017388.1:c.4980-144_4980-143delinsAT	XP_016872877.1:n.4980-144_4980-143delinsAT
XM_017017389.1:c.4953-144_4953-143delinsAT	XP_016872878.1:n.4953-144_4953-143delinsAT
XM_017017390.1:c.3270-144_3270-143delinsAT	XP_016872879.1:n.3270-144_3270-143delinsAT
NM_133266.5:c.3216-144_3216-143delinsAT	NP_573573.2:n.3216-144_3216-143delinsAT
NR_110766.2:n.835-144_835-143delinsAT
NM_001379226.1:c.3843-144_3843-143delinsAT	NP_001366155.1:n.3843-144_3843-143delinsAT
NM_012309.5:c.4980-144_4980-143delinsAT MANE Select	NP_036441.2:n.4980-144_4980-143delinsAT