Canonical Allele Identifier: CA2577768295

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697487_50697490del , CM000684.2:g.50697487_50697490del	GRCh38
NC_000022.10:g.51135915_51135918del , CM000684.1:g.51135915_51135918del	GRCh37
NC_000022.9:g.49482781_49482784del	NCBI36
NG_008607.2:g.27846_27849del
NG_070230.1:g.33065_33068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-77_948-74del	ENSP00000489147.2:n.948-77_948-74del
ENST00000414786.7:n.1532-77_1532-74del
ENST00000673971.2:c.1305-77_1305-74del	ENSP00000501192.1:n.1305-77_1305-74del
ENST00000262795.6:c.948-77_948-74del	ENSP00000489147.2:n.948-77_948-74del
ENST00000673971.1:c.1305-77_1305-74del	ENSP00000501192.1:n.1305-77_1305-74del
ENST00000262795.5:c.1345-78_1345-75del	ENSP00000489147.1:n.1345-78_1345-75del
ENST00000414786.6:n.1532-77_1532-74del
ENST00000445220.5:c.1326-77_1326-74del	ENSP00000489407.1:n.1326-77_1326-74del