Canonical Allele Identifier: CA2657597083

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697300-G-GCCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697301_50697302insCTGTC , CM000684.2:g.50697301_50697302insCTGTC	GRCh38
NC_000022.10:g.51135729_51135730insCTGTC , CM000684.1:g.51135729_51135730insCTGTC	GRCh37
NC_000022.9:g.49482595_49482596insCTGTC	NCBI36
NG_008607.2:g.27660_27661insCTGTC
NG_070230.1:g.32879_32880insCTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-263_948-262insCTGTC	ENSP00000489147.2:n.948-263_948-262insCTGTC
ENST00000414786.7:n.1532-263_1532-262insCTGTC
ENST00000673971.2:c.1305-263_1305-262insCTGTC	ENSP00000501192.1:n.1305-263_1305-262insCTGTC
ENST00000262795.6:c.948-263_948-262insCTGTC	ENSP00000489147.2:n.948-263_948-262insCTGTC
ENST00000673971.1:c.1305-263_1305-262insCTGTC	ENSP00000501192.1:n.1305-263_1305-262insCTGTC
ENST00000262795.5:c.1344+34_1344+35insCTGTC	ENSP00000489147.1:n.1344+34_1344+35insCTGTC
ENST00000414786.6:n.1532-263_1532-262insCTGTC
ENST00000445220.5:c.1326-263_1326-262insCTGTC	ENSP00000489407.1:n.1326-263_1326-262insCTGTC