Canonical Allele Identifier: CA2792603586

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473169_70473170insAACA , CM000673.2:g.70473169_70473170insAACA	GRCh38
NC_000011.9:g.70319274_70319275insAACA , CM000673.1:g.70319274_70319275insAACA	GRCh37
NC_000011.8:g.69996922_69996923insAACA	NCBI36
NG_042866.1:g.656627_656628insTGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3482_3483insTGTT	ENSP00000345193.7:p.Asp1162ValfsTer13
ENST00000412252.6:c.1027_1028insTGTT	ENSP00000414876.2:n.1027_1028insTGTT
ENST00000601538.6:c.5249_5250insTGTT MANE Select	ENSP00000469689.2:p.Asp1751ValfsTer13
ENST00000654939.1:c.2758_2759insTGTT
ENST00000656230.1:c.4112_4113insTGTT	ENSP00000499561.1:p.Asp1372ValfsTer13
ENST00000659264.1:c.3539_3540insTGTT	ENSP00000499270.1:p.Asp1181ValfsTer13
ENST00000338508.8:c.3485_3486insTGTT	ENSP00000345193.6:p.Asp1163ValfsTer13
ENST00000357171.7:c.*253_*254insTGTT	ENSP00000349694.4:n.*253_*254insTGTT
ENST00000409161.5:c.3461_3462insTGTT	ENSP00000386491.1:p.Asp1155ValfsTer13
ENST00000412252.5:c.1025_1026insTGTT
ENST00000423696.6:c.4112_4113insTGTT	ENSP00000394536.2:p.Asp1372ValfsTer13
ENST00000424924.5:c.3086_3087insTGTT	ENSP00000402944.1:p.Asp1030ValfsTer13
ENST00000449833.6:c.3485_3486insTGTT	ENSP00000399423.3:p.Asp1163ValfsTer13
ENST00000601538.5:c.5249_5250insTGTT	ENSP00000469689.2:p.Asp1751ValfsTer13
ENST00000606715.3:n.2001_2002insTGTT
NM_012309.4:c.5249_5250insTGTT	NP_036441.2:p.Asp1751ValfsTer13
NM_133266.4:c.3485_3486insTGTT	NP_573573.2:p.Asp1163ValfsTer13
NR_110766.1:n.1103_1104insTGTT
XM_005277930.2:c.5249_5250insTGTT	XP_005277987.1:p.Asp1751ValfsTer13
XM_005277932.2:c.4112_4113insTGTT	XP_005277989.1:p.Asp1372ValfsTer13
XM_006718478.2:c.5219_5220insTGTT	XP_006718541.1:p.Asp1741ValfsTer13
XM_011544854.1:c.5261_5262insTGTT	XP_011543156.1:p.Asp1755ValfsTer13
XM_011544855.1:c.5240_5241insTGTT	XP_011543157.1:p.Asp1748ValfsTer13
XM_011544856.1:c.5234_5235insTGTT	XP_011543158.1:p.Asp1746ValfsTer13
XM_011544857.1:c.5213_5214insTGTT	XP_011543159.1:p.Asp1739ValfsTer13
XM_011544859.1:c.4124_4125insTGTT	XP_011543161.1:p.Asp1376ValfsTer13
XM_005277932.3:c.4112_4113insTGTT	XP_005277989.1:p.Asp1372ValfsTer13
XM_017017387.1:c.5249_5250insTGTT	XP_016872876.1:p.Asp1751ValfsTer13
XM_017017388.1:c.5249_5250insTGTT	XP_016872877.1:p.Asp1751ValfsTer13
XM_017017389.1:c.5222_5223insTGTT	XP_016872878.1:p.Asp1742ValfsTer13
XM_017017390.1:c.3539_3540insTGTT	XP_016872879.1:p.Asp1181ValfsTer13
NM_133266.5:c.3485_3486insTGTT	NP_573573.2:p.Asp1163ValfsTer13
NR_110766.2:n.1104_1105insTGTT
NM_001379226.1:c.4112_4113insTGTT	NP_001366155.1:p.Asp1372ValfsTer13
NM_012309.5:c.5249_5250insTGTT MANE Select	NP_036441.2:p.Asp1751ValfsTer13