Canonical Allele Identifier: CA2792603587

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473169_70473170insAAA , CM000673.2:g.70473169_70473170insAAA	GRCh38
NC_000011.9:g.70319274_70319275insAAA , CM000673.1:g.70319274_70319275insAAA	GRCh37
NC_000011.8:g.69996922_69996923insAAA	NCBI36
NG_042866.1:g.656627_656628insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3482_3483insTTT	ENSP00000345193.7:p.Gly1161_Asp1162insLeu
ENST00000412252.6:c.1027_1028insTTT	ENSP00000414876.2:n.1027_1028insTTT
ENST00000601538.6:c.5249_5250insTTT MANE Select	ENSP00000469689.2:p.Gly1750_Asp1751insLeu
ENST00000654939.1:c.2758_2759insTTT
ENST00000656230.1:c.4112_4113insTTT	ENSP00000499561.1:p.Gly1371_Asp1372insLeu
ENST00000659264.1:c.3539_3540insTTT	ENSP00000499270.1:p.Gly1180_Asp1181insLeu
ENST00000338508.8:c.3485_3486insTTT	ENSP00000345193.6:p.Gly1162_Asp1163insLeu
ENST00000357171.7:c.*253_*254insTTT	ENSP00000349694.4:n.*253_*254insTTT
ENST00000409161.5:c.3461_3462insTTT	ENSP00000386491.1:p.Gly1154_Asp1155insLeu
ENST00000412252.5:c.1025_1026insTTT
ENST00000423696.6:c.4112_4113insTTT	ENSP00000394536.2:p.Gly1371_Asp1372insLeu
ENST00000424924.5:c.3086_3087insTTT	ENSP00000402944.1:p.Gly1029_Asp1030insLeu
ENST00000449833.6:c.3485_3486insTTT	ENSP00000399423.3:p.Gly1162_Asp1163insLeu
ENST00000601538.5:c.5249_5250insTTT	ENSP00000469689.2:p.Gly1750_Asp1751insLeu
ENST00000606715.3:n.2001_2002insTTT
NM_012309.4:c.5249_5250insTTT	NP_036441.2:p.Gly1750_Asp1751insLeu
NM_133266.4:c.3485_3486insTTT	NP_573573.2:p.Gly1162_Asp1163insLeu
NR_110766.1:n.1103_1104insTTT
XM_005277930.2:c.5249_5250insTTT	XP_005277987.1:p.Gly1750_Asp1751insLeu
XM_005277932.2:c.4112_4113insTTT	XP_005277989.1:p.Gly1371_Asp1372insLeu
XM_006718478.2:c.5219_5220insTTT	XP_006718541.1:p.Gly1740_Asp1741insLeu
XM_011544854.1:c.5261_5262insTTT	XP_011543156.1:p.Gly1754_Asp1755insLeu
XM_011544855.1:c.5240_5241insTTT	XP_011543157.1:p.Gly1747_Asp1748insLeu
XM_011544856.1:c.5234_5235insTTT	XP_011543158.1:p.Gly1745_Asp1746insLeu
XM_011544857.1:c.5213_5214insTTT	XP_011543159.1:p.Gly1738_Asp1739insLeu
XM_011544859.1:c.4124_4125insTTT	XP_011543161.1:p.Gly1375_Asp1376insLeu
XM_005277932.3:c.4112_4113insTTT	XP_005277989.1:p.Gly1371_Asp1372insLeu
XM_017017387.1:c.5249_5250insTTT	XP_016872876.1:p.Gly1750_Asp1751insLeu
XM_017017388.1:c.5249_5250insTTT	XP_016872877.1:p.Gly1750_Asp1751insLeu
XM_017017389.1:c.5222_5223insTTT	XP_016872878.1:p.Gly1741_Asp1742insLeu
XM_017017390.1:c.3539_3540insTTT	XP_016872879.1:p.Gly1180_Asp1181insLeu
NM_133266.5:c.3485_3486insTTT	NP_573573.2:p.Gly1162_Asp1163insLeu
NR_110766.2:n.1104_1105insTTT
NM_001379226.1:c.4112_4113insTTT	NP_001366155.1:p.Gly1371_Asp1372insLeu
NM_012309.5:c.5249_5250insTTT MANE Select	NP_036441.2:p.Gly1750_Asp1751insLeu