Canonical Allele Identifier: CA2548103175

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697429_50697481del , CM000684.2:g.50697429_50697481del	GRCh38
NC_000022.10:g.51135857_51135909del , CM000684.1:g.51135857_51135909del	GRCh37
NC_000022.9:g.49482723_49482775del	NCBI36
NG_008607.2:g.27788_27840del
NG_070230.1:g.33007_33059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-135_948-83del	ENSP00000489147.2:n.948-135_948-83del
ENST00000414786.7:n.1532-135_1532-83del
ENST00000673971.2:c.1305-135_1305-83del	ENSP00000501192.1:n.1305-135_1305-83del
ENST00000262795.6:c.948-135_948-83del	ENSP00000489147.2:n.948-135_948-83del
ENST00000673971.1:c.1305-135_1305-83del	ENSP00000501192.1:n.1305-135_1305-83del
ENST00000262795.5:c.1345-136_1345-84del	ENSP00000489147.1:n.1345-136_1345-84del
ENST00000414786.6:n.1532-135_1532-83del
ENST00000445220.5:c.1326-135_1326-83del	ENSP00000489407.1:n.1326-135_1326-83del