Canonical Allele Identifier: CA1981068188

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473705_70473706delinsTG , CM000673.2:g.70473705_70473706delinsTG	GRCh38
NC_000011.9:g.70319810_70319811delinsTG , CM000673.1:g.70319810_70319811delinsTG	GRCh37
NC_000011.8:g.69997458_69997459delinsTG	NCBI36
NG_042866.1:g.656091_656092delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-267_3213-266delinsCA	ENSP00000345193.7:n.3213-267_3213-266delinsCA
ENST00000412252.6:c.758-267_758-266delinsCA	ENSP00000414876.2:n.758-267_758-266delinsCA
ENST00000601538.6:c.4980-267_4980-266delinsCA MANE Select	ENSP00000469689.2:n.4980-267_4980-266delinsCA
ENST00000654939.1:c.2489-267_2489-266delinsCA
ENST00000656230.1:c.3843-267_3843-266delinsCA	ENSP00000499561.1:n.3843-267_3843-266delinsCA
ENST00000659264.1:c.3270-267_3270-266delinsCA	ENSP00000499270.1:n.3270-267_3270-266delinsCA
ENST00000338508.8:c.3216-267_3216-266delinsCA	ENSP00000345193.6:n.3216-267_3216-266delinsCA
ENST00000357171.7:c.719-267_719-266delinsCA	ENSP00000349694.4:n.719-267_719-266delinsCA
ENST00000409161.5:c.3192-267_3192-266delinsCA	ENSP00000386491.1:n.3192-267_3192-266delinsCA
ENST00000412252.5:c.756-267_756-266delinsCA
ENST00000423696.6:c.3843-267_3843-266delinsCA	ENSP00000394536.2:n.3843-267_3843-266delinsCA
ENST00000424924.5:c.2817-267_2817-266delinsCA	ENSP00000402944.1:n.2817-267_2817-266delinsCA
ENST00000449833.6:c.3216-267_3216-266delinsCA	ENSP00000399423.3:n.3216-267_3216-266delinsCA
ENST00000601538.5:c.4980-267_4980-266delinsCA	ENSP00000469689.2:n.4980-267_4980-266delinsCA
ENST00000606715.3:n.1465_1466delinsCA
NM_012309.4:c.4980-267_4980-266delinsCA	NP_036441.2:n.4980-267_4980-266delinsCA
NM_133266.4:c.3216-267_3216-266delinsCA	NP_573573.2:n.3216-267_3216-266delinsCA
NR_110766.1:n.834-267_834-266delinsCA
XM_005277930.2:c.4980-267_4980-266delinsCA	XP_005277987.1:n.4980-267_4980-266delinsCA
XM_005277932.2:c.3843-267_3843-266delinsCA	XP_005277989.1:n.3843-267_3843-266delinsCA
XM_006718478.2:c.4950-267_4950-266delinsCA	XP_006718541.1:n.4950-267_4950-266delinsCA
XM_011544854.1:c.4992-267_4992-266delinsCA	XP_011543156.1:n.4992-267_4992-266delinsCA
XM_011544855.1:c.4971-267_4971-266delinsCA	XP_011543157.1:n.4971-267_4971-266delinsCA
XM_011544856.1:c.4965-267_4965-266delinsCA	XP_011543158.1:n.4965-267_4965-266delinsCA
XM_011544857.1:c.4944-267_4944-266delinsCA	XP_011543159.1:n.4944-267_4944-266delinsCA
XM_011544859.1:c.3855-267_3855-266delinsCA	XP_011543161.1:n.3855-267_3855-266delinsCA
XM_005277932.3:c.3843-267_3843-266delinsCA	XP_005277989.1:n.3843-267_3843-266delinsCA
XM_017017387.1:c.4980-267_4980-266delinsCA	XP_016872876.1:n.4980-267_4980-266delinsCA
XM_017017388.1:c.4980-267_4980-266delinsCA	XP_016872877.1:n.4980-267_4980-266delinsCA
XM_017017389.1:c.4953-267_4953-266delinsCA	XP_016872878.1:n.4953-267_4953-266delinsCA
XM_017017390.1:c.3270-267_3270-266delinsCA	XP_016872879.1:n.3270-267_3270-266delinsCA
NM_133266.5:c.3216-267_3216-266delinsCA	NP_573573.2:n.3216-267_3216-266delinsCA
NR_110766.2:n.835-267_835-266delinsCA
NM_001379226.1:c.3843-267_3843-266delinsCA	NP_001366155.1:n.3843-267_3843-266delinsCA
NM_012309.5:c.4980-267_4980-266delinsCA MANE Select	NP_036441.2:n.4980-267_4980-266delinsCA