Canonical Allele Identifier: CA2410995294

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697534_50697535delinsCA , CM000684.2:g.50697534_50697535delinsCA	GRCh38
NC_000022.10:g.51135962_51135963delinsCA , CM000684.1:g.51135962_51135963delinsCA	GRCh37
NC_000022.9:g.49482828_49482829delinsCA	NCBI36
NG_008607.2:g.27893_27894delinsCA
NG_070230.1:g.33112_33113delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-30_948-29delinsCA	ENSP00000489147.2:n.948-30_948-29delinsCA
ENST00000414786.7:n.1532-30_1532-29delinsCA
ENST00000673971.2:c.1305-30_1305-29delinsCA	ENSP00000501192.1:n.1305-30_1305-29delinsCA
ENST00000262795.6:c.948-30_948-29delinsCA	ENSP00000489147.2:n.948-30_948-29delinsCA
ENST00000673971.1:c.1305-30_1305-29delinsCA	ENSP00000501192.1:n.1305-30_1305-29delinsCA
ENST00000262795.5:c.1345-31_1345-30delinsCA	ENSP00000489147.1:n.1345-31_1345-30delinsCA
ENST00000414786.6:n.1532-30_1532-29delinsCA
ENST00000445220.5:c.1326-30_1326-29delinsCA	ENSP00000489407.1:n.1326-30_1326-29delinsCA