Canonical Allele Identifier: CA2657597709

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697512-CATGGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697513_50697518del , CM000684.2:g.50697513_50697518del	GRCh38
NC_000022.10:g.51135941_51135946del , CM000684.1:g.51135941_51135946del	GRCh37
NC_000022.9:g.49482807_49482812del	NCBI36
NG_008607.2:g.27872_27877del
NG_070230.1:g.33091_33096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-51_948-46del	ENSP00000489147.2:n.948-51_948-46del
ENST00000414786.7:n.1532-51_1532-46del
ENST00000673971.2:c.1305-51_1305-46del	ENSP00000501192.1:n.1305-51_1305-46del
ENST00000262795.6:c.948-51_948-46del	ENSP00000489147.2:n.948-51_948-46del
ENST00000673971.1:c.1305-51_1305-46del	ENSP00000501192.1:n.1305-51_1305-46del
ENST00000262795.5:c.1345-52_1345-47del	ENSP00000489147.1:n.1345-52_1345-47del
ENST00000414786.6:n.1532-51_1532-46del
ENST00000445220.5:c.1326-51_1326-46del	ENSP00000489407.1:n.1326-51_1326-46del