Canonical Allele Identifier: CA2411004642

Gene: SHANK3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50714824_50714826delinsCTG , CM000684.2:g.50714824_50714826delinsCTG	GRCh38
NC_000022.10:g.51153252_51153254delinsCTG , CM000684.1:g.51153252_51153254delinsCTG	GRCh37
NC_000022.9:g.49500118_49500120delinsCTG	NCBI36
NG_008607.2:g.45470_45472delinsCTG
NG_070230.1:g.50690_50692delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.1736-93_1736-91delinsCTG	ENSP00000489147.2:n.1736-93_1736-91delinsCTG
ENST00000414786.7:n.2320-93_2320-91delinsCTG
ENST00000445220.7:c.788-93_788-91delinsCTG	ENSP00000489407.2:n.788-93_788-91delinsCTG
ENST00000664402.2:c.278-93_278-91delinsCTG	ENSP00000499475.1:n.278-93_278-91delinsCTG
ENST00000673971.2:c.*734-93_*734-91delinsCTG	ENSP00000501192.1:n.*734-93_*734-91delinsCTG
ENST00000445220.6:c.788-93_788-91delinsCTG	ENSP00000489407.2:n.788-93_788-91delinsCTG
ENST00000262795.6:c.1736-93_1736-91delinsCTG	ENSP00000489147.2:n.1736-93_1736-91delinsCTG
ENST00000664402.1:c.278-93_278-91delinsCTG	ENSP00000499475.1:n.278-93_278-91delinsCTG
ENST00000673971.1:c.*734-93_*734-91delinsCTG	ENSP00000501192.1:n.*734-93_*734-91delinsCTG
ENST00000262795.5:c.2132-93_2132-91delinsCTG	ENSP00000489147.1:n.2132-93_2132-91delinsCTG
ENST00000414786.6:n.2320-93_2320-91delinsCTG
ENST00000445220.5:c.2114-93_2114-91delinsCTG	ENSP00000489407.1:n.2114-93_2114-91delinsCTG