Canonical Allele Identifier: CA754092439

Gene: SHANK3

Linked Data

• dbSNP Id: rs1276304417
• gnomAD v4: 22-50720331-G-GGCCGCCCCCGGCCTTCTCGCC
• MyVariant Identifiers: chr22:g.51158759_51158760insGCCGCCCCCGGCCTTCTCGCC (hg19) ; chr22:g.50720331_50720332insGCCGCCCCCGGCCTTCTCGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720342_50720362dup , CM000684.2:g.50720342_50720362dup	GRCh38
NC_000022.10:g.51158770_51158790dup , CM000684.1:g.51158770_51158790dup	GRCh37
NC_000022.9:g.49505636_49505656dup	NCBI36
NG_008607.2:g.50988_51008dup
NG_070230.1:g.56126_56146dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000262795.7:c.2110_2130dup	ENSP00000489147.2:p.Pro710_Pro711insAlaPheSerProProProPro
ENST00000414786.7:n.2694_2714dup
ENST00000445220.7:c.1162_1182dup	ENSP00000489407.2:p.Pro394_Pro395insAlaPheSerProProProPro
ENST00000664402.2:c.652_672dup	ENSP00000499475.1:p.Pro224_Pro225insAlaPheSerProProProPro
ENST00000673971.2:c.*1108_*1128dup	ENSP00000501192.1:n.*1108_*1128dup
ENST00000445220.6:c.1162_1182dup	ENSP00000489407.2:p.Pro394_Pro395insAlaPheSerProProProPro
ENST00000262795.6:c.2110_2130dup	ENSP00000489147.2:p.Pro710_Pro711insAlaPheSerProProProPro
ENST00000664402.1:c.652_672dup	ENSP00000499475.1:p.Pro224_Pro225insAlaPheSerProProProPro
ENST00000673971.1:c.*1108_*1128dup	ENSP00000501192.1:n.*1108_*1128dup
ENST00000262795.5:c.2506_2526dup	ENSP00000489147.1:p.Pro842_Pro843insAlaPheSerProProProPro
ENST00000414786.6:n.2694_2714dup
ENST00000445220.5:c.2488_2508dup	ENSP00000489407.1:p.Pro836_Pro837insAlaPheSerProProProPro