Canonical Allele Identifier: CA1026671884

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50720437-C-CCG
• gnomAD v4: 22-50720437-C-CCG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50720437_50720438insCG , CM000684.2:g.50720437_50720438insCG	GRCh38
NC_000022.10:g.51158865_51158866insCG , CM000684.1:g.51158865_51158866insCG	GRCh37
NC_000022.9:g.49505731_49505732insCG	NCBI36
NG_008607.2:g.51083_51084insCG
NG_070230.1:g.56221_56222insCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.2205_2206insCG	ENSP00000489147.2:p.Gly736ArgfsTer25
ENST00000414786.7:n.2789_2790insCG
ENST00000445220.7:c.1257_1258insCG	ENSP00000489407.2:p.Gly420ArgfsTer25
ENST00000664402.2:c.747_748insCG	ENSP00000499475.1:p.Gly250ArgfsTer25
ENST00000673971.2:c.*1203_*1204insCG	ENSP00000501192.1:n.*1203_*1204insCG
ENST00000445220.6:c.1257_1258insCG	ENSP00000489407.2:p.Gly420ArgfsTer25
ENST00000262795.6:c.2205_2206insCG	ENSP00000489147.2:p.Gly736ArgfsTer25
ENST00000664402.1:c.747_748insCG	ENSP00000499475.1:p.Gly250ArgfsTer25
ENST00000673971.1:c.*1203_*1204insCG	ENSP00000501192.1:n.*1203_*1204insCG
ENST00000262795.5:c.2601_2602insCG	ENSP00000489147.1:p.Gly868ArgfsTer25
ENST00000414786.6:n.2789_2790insCG
ENST00000445220.5:c.2583_2584insCG	ENSP00000489407.1:p.Gly862ArgfsTer25