Canonical Allele Identifier: CA2410995261

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697503_50697504delinsCG , CM000684.2:g.50697503_50697504delinsCG	GRCh38
NC_000022.10:g.51135931_51135932delinsCG , CM000684.1:g.51135931_51135932delinsCG	GRCh37
NC_000022.9:g.49482797_49482798delinsCG	NCBI36
NG_008607.2:g.27862_27863delinsCG
NG_070230.1:g.33081_33082delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-61_948-60delinsCG	ENSP00000489147.2:n.948-61_948-60delinsCG
ENST00000414786.7:n.1532-61_1532-60delinsCG
ENST00000673971.2:c.1305-61_1305-60delinsCG	ENSP00000501192.1:n.1305-61_1305-60delinsCG
ENST00000262795.6:c.948-61_948-60delinsCG	ENSP00000489147.2:n.948-61_948-60delinsCG
ENST00000673971.1:c.1305-61_1305-60delinsCG	ENSP00000501192.1:n.1305-61_1305-60delinsCG
ENST00000262795.5:c.1345-62_1345-61delinsCG	ENSP00000489147.1:n.1345-62_1345-61delinsCG
ENST00000414786.6:n.1532-61_1532-60delinsCG
ENST00000445220.5:c.1326-61_1326-60delinsCG	ENSP00000489407.1:n.1326-61_1326-60delinsCG