Canonical Allele Identifier: CA2410995183

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697397_50697408delinsCCTCCCGGGGGT , CM000684.2:g.50697397_50697408delinsCCTCCCGGGGGT	GRCh38
NC_000022.10:g.51135825_51135836delinsCCTCCCGGGGGT , CM000684.1:g.51135825_51135836delinsCCTCCCGGGGGT	GRCh37
NC_000022.9:g.49482691_49482702delinsCCTCCCGGGGGT	NCBI36
NG_008607.2:g.27756_27767delinsCCTCCCGGGGGT
NG_070230.1:g.32975_32986delinsCCTCCCGGGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-167_948-156delinsCCTCCCGGGGGT	ENSP00000489147.2:n.948-167_948-156delinsCCTCCCGGGGGT
ENST00000414786.7:n.1532-167_1532-156delinsCCTCCCGGGGGT
ENST00000673971.2:c.1305-167_1305-156delinsCCTCCCGGGGGT	ENSP00000501192.1:n.1305-167_1305-156delinsCCTCCCGGGGGT
ENST00000262795.6:c.948-167_948-156delinsCCTCCCGGGGGT	ENSP00000489147.2:n.948-167_948-156delinsCCTCCCGGGGGT
ENST00000673971.1:c.1305-167_1305-156delinsCCTCCCGGGGGT	ENSP00000501192.1:n.1305-167_1305-156delinsCCTCCCGGGGGT
ENST00000262795.5:c.1344+130_1344+141delinsCCTCCCGGGGGT	ENSP00000489147.1:n.1344+130_1344+141delinsCCTCCCGGGGGT
ENST00000414786.6:n.1532-167_1532-156delinsCCTCCCGGGGGT
ENST00000445220.5:c.1326-167_1326-156delinsCCTCCCGGGGGT	ENSP00000489407.1:n.1326-167_1326-156delinsCCTCCCGGGGGT