Canonical Allele Identifier: CA2410995191

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697402_50697417delinsCGGGGGTCGGCGGCGA , CM000684.2:g.50697402_50697417delinsCGGGGGTCGGCGGCGA	GRCh38
NC_000022.10:g.51135830_51135845delinsCGGGGGTCGGCGGCGA , CM000684.1:g.51135830_51135845delinsCGGGGGTCGGCGGCGA	GRCh37
NC_000022.9:g.49482696_49482711delinsCGGGGGTCGGCGGCGA	NCBI36
NG_008607.2:g.27761_27776delinsCGGGGGTCGGCGGCGA
NG_070230.1:g.32980_32995delinsCGGGGGTCGGCGGCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-162_948-147delinsCGGGGGTCGGCGGCGA	ENSP00000489147.2:n.948-162_948-147delinsCGGGGGTCGGCGGCGA
ENST00000414786.7:n.1532-162_1532-147delinsCGGGGGTCGGCGGCGA
ENST00000673971.2:c.1305-162_1305-147delinsCGGGGGTCGGCGGCGA	ENSP00000501192.1:n.1305-162_1305-147delinsCGGGGGTCGGCGGCGA
ENST00000262795.6:c.948-162_948-147delinsCGGGGGTCGGCGGCGA	ENSP00000489147.2:n.948-162_948-147delinsCGGGGGTCGGCGGCGA
ENST00000673971.1:c.1305-162_1305-147delinsCGGGGGTCGGCGGCGA	ENSP00000501192.1:n.1305-162_1305-147delinsCGGGGGTCGGCGGCGA
ENST00000262795.5:c.1344+135_1345-148delinsCGGGGGTCGGCGGCGA	ENSP00000489147.1:n.1344+135_1345-148delinsCGGGGGTCGGCGGCGA
ENST00000414786.6:n.1532-162_1532-147delinsCGGGGGTCGGCGGCGA
ENST00000445220.5:c.1326-162_1326-147delinsCGGGGGTCGGCGGCGA	ENSP00000489407.1:n.1326-162_1326-147delinsCGGGGGTCGGCGGCGA