Canonical Allele Identifier: CA2657597248

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697386-T-TCCGAACTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697389_50697397dup , CM000684.2:g.50697389_50697397dup	GRCh38
NC_000022.10:g.51135817_51135825dup , CM000684.1:g.51135817_51135825dup	GRCh37
NC_000022.9:g.49482683_49482691dup	NCBI36
NG_008607.2:g.27748_27756dup
NG_070230.1:g.32967_32975dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-175_948-167dup	ENSP00000489147.2:n.948-175_948-167dup
ENST00000414786.7:n.1532-175_1532-167dup
ENST00000673971.2:c.1305-175_1305-167dup	ENSP00000501192.1:n.1305-175_1305-167dup
ENST00000262795.6:c.948-175_948-167dup	ENSP00000489147.2:n.948-175_948-167dup
ENST00000673971.1:c.1305-175_1305-167dup	ENSP00000501192.1:n.1305-175_1305-167dup
ENST00000262795.5:c.1344+122_1344+130dup	ENSP00000489147.1:n.1344+122_1344+130dup
ENST00000414786.6:n.1532-175_1532-167dup
ENST00000445220.5:c.1326-175_1326-167dup	ENSP00000489407.1:n.1326-175_1326-167dup