Canonical Allele Identifier: CA2574908642

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473136_70473138del , CM000673.2:g.70473136_70473138del	GRCh38
NC_000011.9:g.70319241_70319243del , CM000673.1:g.70319241_70319243del	GRCh37
NC_000011.8:g.69996889_69996891del	NCBI36
NG_042866.1:g.656661_656663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3516_3518del	ENSP00000345193.7:p.Ser1172del
ENST00000412252.6:c.1061_1063del	ENSP00000414876.2:n.1061_1063del
ENST00000601538.6:c.5283_5285del MANE Select	ENSP00000469689.2:p.Ser1761del
ENST00000654939.1:c.2792_2794del
ENST00000656230.1:c.4146_4148del	ENSP00000499561.1:p.Ser1382del
ENST00000659264.1:c.3573_3575del	ENSP00000499270.1:p.Ser1191del
ENST00000338508.8:c.3519_3521del	ENSP00000345193.6:p.Ser1173del
ENST00000357171.7:c.*287_*289del	ENSP00000349694.4:n.*287_*289del
ENST00000409161.5:c.3495_3497del	ENSP00000386491.1:p.Ser1165del
ENST00000412252.5:c.1059_1061del
ENST00000423696.6:c.4146_4148del	ENSP00000394536.2:p.Ser1382del
ENST00000424924.5:c.3120_3122del	ENSP00000402944.1:p.Ser1040del
ENST00000449833.6:c.3519_3521del	ENSP00000399423.3:p.Ser1173del
ENST00000601538.5:c.5283_5285del	ENSP00000469689.2:p.Ser1761del
ENST00000606715.3:n.2035_2037del
NM_012309.4:c.5283_5285del	NP_036441.2:p.Ser1761del
NM_133266.4:c.3519_3521del	NP_573573.2:p.Ser1173del
NR_110766.1:n.1137_1139del
XM_005277930.2:c.5283_5285del	XP_005277987.1:p.Ser1761del
XM_005277932.2:c.4146_4148del	XP_005277989.1:p.Ser1382del
XM_006718478.2:c.5253_5255del	XP_006718541.1:p.Ser1751del
XM_011544854.1:c.5295_5297del	XP_011543156.1:p.Ser1765del
XM_011544855.1:c.5274_5276del	XP_011543157.1:p.Ser1758del
XM_011544856.1:c.5268_5270del	XP_011543158.1:p.Ser1756del
XM_011544857.1:c.5247_5249del	XP_011543159.1:p.Ser1749del
XM_011544859.1:c.4158_4160del	XP_011543161.1:p.Ser1386del
XM_005277932.3:c.4146_4148del	XP_005277989.1:p.Ser1382del
XM_017017387.1:c.5283_5285del	XP_016872876.1:p.Ser1761del
XM_017017388.1:c.5283_5285del	XP_016872877.1:p.Ser1761del
XM_017017389.1:c.5256_5258del	XP_016872878.1:p.Ser1752del
XM_017017390.1:c.3573_3575del	XP_016872879.1:p.Ser1191del
NM_133266.5:c.3519_3521del	NP_573573.2:p.Ser1173del
NR_110766.2:n.1138_1140del
NM_001379226.1:c.4146_4148del	NP_001366155.1:p.Ser1382del
NM_012309.5:c.5283_5285del MANE Select	NP_036441.2:p.Ser1761del