Canonical Allele Identifier: CA2614838665

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70485998-GGGACAGAAGCTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486001_70486015del , CM000673.2:g.70486001_70486015del	GRCh38
NC_000011.9:g.70332106_70332120del , CM000673.1:g.70332106_70332120del	GRCh37
NC_000011.8:g.70009754_70009768del	NCBI36
NG_042866.1:g.643784_643798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2513_2527del	ENSP00000345193.7:p.Arg838_Val842del
ENST00000412252.6:c.757+4290_757+4304del	ENSP00000414876.2:n.757+4290_757+4304del
ENST00000601538.6:c.4280_4294del MANE Select	ENSP00000469689.2:p.Arg1427_Val1431del
ENST00000654939.1:c.1708_1722del
ENST00000656230.1:c.3143_3157del	ENSP00000499561.1:p.Arg1048_Val1052del
ENST00000659264.1:c.2570_2584del	ENSP00000499270.1:p.Arg857_Val861del
ENST00000338508.8:c.2516_2530del	ENSP00000345193.6:p.Arg839_Val843del
ENST00000357171.7:c.718+4290_718+4304del	ENSP00000349694.4:n.718+4290_718+4304del
ENST00000409161.5:c.2492_2506del	ENSP00000386491.1:p.Arg831_Val835del
ENST00000412252.5:c.755+4290_755+4304del
ENST00000423696.6:c.3143_3157del	ENSP00000394536.2:p.Arg1048_Val1052del
ENST00000424924.5:c.2117_2131del	ENSP00000402944.1:p.Arg706_Val710del
ENST00000449833.6:c.2516_2530del	ENSP00000399423.3:p.Arg839_Val843del
ENST00000601538.5:c.4280_4294del	ENSP00000469689.2:p.Arg1427_Val1431del
NM_012309.4:c.4280_4294del	NP_036441.2:p.Arg1427_Val1431del
NM_133266.4:c.2516_2530del	NP_573573.2:p.Arg839_Val843del
NR_110766.1:n.833+4290_833+4304del
XM_005277930.2:c.4280_4294del	XP_005277987.1:p.Arg1427_Val1431del
XM_005277932.2:c.3143_3157del	XP_005277989.1:p.Arg1048_Val1052del
XM_006718478.2:c.4250_4264del	XP_006718541.1:p.Arg1417_Val1421del
XM_011544854.1:c.4292_4306del	XP_011543156.1:p.Arg1431_Val1435del
XM_011544855.1:c.4271_4285del	XP_011543157.1:p.Arg1424_Val1428del
XM_011544856.1:c.4265_4279del	XP_011543158.1:p.Arg1422_Val1426del
XM_011544857.1:c.4244_4258del	XP_011543159.1:p.Arg1415_Val1419del
XM_011544858.1:c.4292_4306del	XP_011543160.1:p.Arg1431_Val1435del
XM_011544859.1:c.3155_3169del	XP_011543161.1:p.Arg1052_Val1056del
XM_005277932.3:c.3143_3157del	XP_005277989.1:p.Arg1048_Val1052del
XM_017017387.1:c.4280_4294del	XP_016872876.1:p.Arg1427_Val1431del
XM_017017388.1:c.4280_4294del	XP_016872877.1:p.Arg1427_Val1431del
XM_017017389.1:c.4253_4267del	XP_016872878.1:p.Arg1418_Val1422del
XM_017017390.1:c.2570_2584del	XP_016872879.1:p.Arg857_Val861del
NM_133266.5:c.2516_2530del	NP_573573.2:p.Arg839_Val843del
NR_110766.2:n.834+4290_834+4304del
NM_001379226.1:c.3143_3157del	NP_001366155.1:p.Arg1048_Val1052del
NM_012309.5:c.4280_4294del MANE Select	NP_036441.2:p.Arg1427_Val1431del