Canonical Allele Identifier: CA1981067912

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473108_70473120delinsGTTGCAGTATCGA , CM000673.2:g.70473108_70473120delinsGTTGCAGTATCGA	GRCh38
NC_000011.9:g.70319213_70319225delinsGTTGCAGTATCGA , CM000673.1:g.70319213_70319225delinsGTTGCAGTATCGA	GRCh37
NC_000011.8:g.69996861_69996873delinsGTTGCAGTATCGA	NCBI36
NG_042866.1:g.656677_656689delinsTCGATACTGCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3532_3544delinsTCGATACTGCAAC	ENSP00000345193.7:p.Ser1178=
ENST00000412252.6:c.1077_1089delinsTCGATACTGCAAC	ENSP00000414876.2:n.1077_1089delinsTCGATACTGCAAC
ENST00000601538.6:c.5299_5311delinsTCGATACTGCAAC MANE Select	ENSP00000469689.2:p.Ser1767=
ENST00000654939.1:c.2808_2820delinsTCGATACTGCAAC
ENST00000656230.1:c.4162_4174delinsTCGATACTGCAAC	ENSP00000499561.1:p.Ser1388=
ENST00000659264.1:c.3589_3601delinsTCGATACTGCAAC	ENSP00000499270.1:p.Ser1197=
ENST00000338508.8:c.3535_3547delinsTCGATACTGCAAC	ENSP00000345193.6:p.Ser1179=
ENST00000357171.7:c.*303_*315delinsTCGATACTGCAAC	ENSP00000349694.4:n.*303_*315delinsTCGATACTGCAAC
ENST00000409161.5:c.3511_3523delinsTCGATACTGCAAC	ENSP00000386491.1:p.Ser1171=
ENST00000412252.5:c.1075_1087delinsTCGATACTGCAAC
ENST00000423696.6:c.4162_4174delinsTCGATACTGCAAC	ENSP00000394536.2:p.Ser1388=
ENST00000424924.5:c.3136_3148delinsTCGATACTGCAAC	ENSP00000402944.1:p.Ser1046=
ENST00000449833.6:c.3535_3547delinsTCGATACTGCAAC	ENSP00000399423.3:p.Ser1179=
ENST00000601538.5:c.5299_5311delinsTCGATACTGCAAC	ENSP00000469689.2:p.Ser1767=
ENST00000606715.3:n.2051_2063delinsTCGATACTGCAAC
NM_012309.4:c.5299_5311delinsTCGATACTGCAAC	NP_036441.2:p.Ser1767=
NM_133266.4:c.3535_3547delinsTCGATACTGCAAC	NP_573573.2:p.Ser1179=
NR_110766.1:n.1153_1165delinsTCGATACTGCAAC
XM_005277930.2:c.5299_5311delinsTCGATACTGCAAC	XP_005277987.1:p.Ser1767=
XM_005277932.2:c.4162_4174delinsTCGATACTGCAAC	XP_005277989.1:p.Ser1388=
XM_006718478.2:c.5269_5281delinsTCGATACTGCAAC	XP_006718541.1:p.Ser1757=
XM_011544854.1:c.5311_5323delinsTCGATACTGCAAC	XP_011543156.1:p.Ser1771=
XM_011544855.1:c.5290_5302delinsTCGATACTGCAAC	XP_011543157.1:p.Ser1764=
XM_011544856.1:c.5284_5296delinsTCGATACTGCAAC	XP_011543158.1:p.Ser1762=
XM_011544857.1:c.5263_5275delinsTCGATACTGCAAC	XP_011543159.1:p.Ser1755=
XM_011544859.1:c.4174_4186delinsTCGATACTGCAAC	XP_011543161.1:p.Ser1392=
XM_005277932.3:c.4162_4174delinsTCGATACTGCAAC	XP_005277989.1:p.Ser1388=
XM_017017387.1:c.5299_5311delinsTCGATACTGCAAC	XP_016872876.1:p.Ser1767=
XM_017017388.1:c.5299_5311delinsTCGATACTGCAAC	XP_016872877.1:p.Ser1767=
XM_017017389.1:c.5272_5284delinsTCGATACTGCAAC	XP_016872878.1:p.Ser1758=
XM_017017390.1:c.3589_3601delinsTCGATACTGCAAC	XP_016872879.1:p.Ser1197=
NM_133266.5:c.3535_3547delinsTCGATACTGCAAC	NP_573573.2:p.Ser1179=
NR_110766.2:n.1154_1166delinsTCGATACTGCAAC
NM_001379226.1:c.4162_4174delinsTCGATACTGCAAC	NP_001366155.1:p.Ser1388=
NM_012309.5:c.5299_5311delinsTCGATACTGCAAC MANE Select	NP_036441.2:p.Ser1767=