Canonical Allele Identifier: CA2792603588

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473170_70473171insACACCCAACA , CM000673.2:g.70473170_70473171insACACCCAACA	GRCh38
NC_000011.9:g.70319275_70319276insACACCCAACA , CM000673.1:g.70319275_70319276insACACCCAACA	GRCh37
NC_000011.8:g.69996923_69996924insACACCCAACA	NCBI36
NG_042866.1:g.656626_656627insTGTTGGGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3481_3482insTGTTGGGTGT	ENSP00000345193.7:p.Gly1161ValfsTer16
ENST00000412252.6:c.1026_1027insTGTTGGGTGT	ENSP00000414876.2:n.1026_1027insTGTTGGGTGT
ENST00000601538.6:c.5248_5249insTGTTGGGTGT MANE Select	ENSP00000469689.2:p.Gly1750ValfsTer16
ENST00000654939.1:c.2757_2758insTGTTGGGTGT
ENST00000656230.1:c.4111_4112insTGTTGGGTGT	ENSP00000499561.1:p.Gly1371ValfsTer16
ENST00000659264.1:c.3538_3539insTGTTGGGTGT	ENSP00000499270.1:p.Gly1180ValfsTer16
ENST00000338508.8:c.3484_3485insTGTTGGGTGT	ENSP00000345193.6:p.Gly1162ValfsTer16
ENST00000357171.7:c.*252_*253insTGTTGGGTGT	ENSP00000349694.4:n.*252_*253insTGTTGGGTGT
ENST00000409161.5:c.3460_3461insTGTTGGGTGT	ENSP00000386491.1:p.Gly1154ValfsTer16
ENST00000412252.5:c.1024_1025insTGTTGGGTGT
ENST00000423696.6:c.4111_4112insTGTTGGGTGT	ENSP00000394536.2:p.Gly1371ValfsTer16
ENST00000424924.5:c.3085_3086insTGTTGGGTGT	ENSP00000402944.1:p.Gly1029ValfsTer16
ENST00000449833.6:c.3484_3485insTGTTGGGTGT	ENSP00000399423.3:p.Gly1162ValfsTer16
ENST00000601538.5:c.5248_5249insTGTTGGGTGT	ENSP00000469689.2:p.Gly1750ValfsTer16
ENST00000606715.3:n.2000_2001insTGTTGGGTGT
NM_012309.4:c.5248_5249insTGTTGGGTGT	NP_036441.2:p.Gly1750ValfsTer16
NM_133266.4:c.3484_3485insTGTTGGGTGT	NP_573573.2:p.Gly1162ValfsTer16
NR_110766.1:n.1102_1103insTGTTGGGTGT
XM_005277930.2:c.5248_5249insTGTTGGGTGT	XP_005277987.1:p.Gly1750ValfsTer16
XM_005277932.2:c.4111_4112insTGTTGGGTGT	XP_005277989.1:p.Gly1371ValfsTer16
XM_006718478.2:c.5218_5219insTGTTGGGTGT	XP_006718541.1:p.Gly1740ValfsTer16
XM_011544854.1:c.5260_5261insTGTTGGGTGT	XP_011543156.1:p.Gly1754ValfsTer16
XM_011544855.1:c.5239_5240insTGTTGGGTGT	XP_011543157.1:p.Gly1747ValfsTer16
XM_011544856.1:c.5233_5234insTGTTGGGTGT	XP_011543158.1:p.Gly1745ValfsTer16
XM_011544857.1:c.5212_5213insTGTTGGGTGT	XP_011543159.1:p.Gly1738ValfsTer16
XM_011544859.1:c.4123_4124insTGTTGGGTGT	XP_011543161.1:p.Gly1375ValfsTer16
XM_005277932.3:c.4111_4112insTGTTGGGTGT	XP_005277989.1:p.Gly1371ValfsTer16
XM_017017387.1:c.5248_5249insTGTTGGGTGT	XP_016872876.1:p.Gly1750ValfsTer16
XM_017017388.1:c.5248_5249insTGTTGGGTGT	XP_016872877.1:p.Gly1750ValfsTer16
XM_017017389.1:c.5221_5222insTGTTGGGTGT	XP_016872878.1:p.Gly1741ValfsTer16
XM_017017390.1:c.3538_3539insTGTTGGGTGT	XP_016872879.1:p.Gly1180ValfsTer16
NM_133266.5:c.3484_3485insTGTTGGGTGT	NP_573573.2:p.Gly1162ValfsTer16
NR_110766.2:n.1103_1104insTGTTGGGTGT
NM_001379226.1:c.4111_4112insTGTTGGGTGT	NP_001366155.1:p.Gly1371ValfsTer16
NM_012309.5:c.5248_5249insTGTTGGGTGT MANE Select	NP_036441.2:p.Gly1750ValfsTer16