Canonical Allele Identifier: CA2411008439

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721763_50721764delinsTG , CM000684.2:g.50721763_50721764delinsTG	GRCh38
NC_000022.10:g.51160191_51160192delinsTG , CM000684.1:g.51160191_51160192delinsTG	GRCh37
NC_000022.9:g.49507057_49507058delinsTG	NCBI36
NG_008607.2:g.52409_52410delinsTG
NG_070230.1:g.57547_57548delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3531_3532delinsTG	ENSP00000489147.2:p.Pro1177=
ENST00000414786.7:n.4115_4116delinsTG
ENST00000445220.7:c.2583_2584delinsTG	ENSP00000489407.2:p.Pro861=
ENST00000664402.2:c.2073_2074delinsTG	ENSP00000499475.1:p.Pro691=
ENST00000673971.2:c.*2529_*2530delinsTG	ENSP00000501192.1:n.*2529_*2530delinsTG
ENST00000445220.6:c.2583_2584delinsTG	ENSP00000489407.2:p.Pro861=
ENST00000262795.6:c.3531_3532delinsTG	ENSP00000489147.2:p.Pro1177=
ENST00000664402.1:c.2073_2074delinsTG	ENSP00000499475.1:p.Pro691=
ENST00000673971.1:c.*2529_*2530delinsTG	ENSP00000501192.1:n.*2529_*2530delinsTG
ENST00000262795.5:c.3927_3928delinsTG	ENSP00000489147.1:p.Pro1309=
ENST00000414786.6:n.4115_4116delinsTG
ENST00000445220.5:c.3909_3910delinsTG	ENSP00000489407.1:p.Pro1303=