Canonical Allele Identifier: CA1026687025

Gene: SHANK3

Linked Data

• gnomAD v3: 22-50697536-G-GGCATCGCGTCCGT
• gnomAD v4: 22-50697536-G-GGCATCGCGTCCGT

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697537_50697538insCATCGCGTCCGTG , CM000684.2:g.50697537_50697538insCATCGCGTCCGTG	GRCh38
NC_000022.10:g.51135965_51135966insCATCGCGTCCGTG , CM000684.1:g.51135965_51135966insCATCGCGTCCGTG	GRCh37
NC_000022.9:g.49482831_49482832insCATCGCGTCCGTG	NCBI36
NG_008607.2:g.27896_27897insCATCGCGTCCGTG
NG_070230.1:g.33115_33116insCATCGCGTCCGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.948-27_948-26insCATCGCGTCCGTG	ENSP00000489147.2:n.948-27_948-26insCATCGCGTCCGTG
ENST00000414786.7:n.1532-27_1532-26insCATCGCGTCCGTG
ENST00000673971.2:c.1305-27_1305-26insCATCGCGTCCGTG	ENSP00000501192.1:n.1305-27_1305-26insCATCGCGTCCGTG
ENST00000262795.6:c.948-27_948-26insCATCGCGTCCGTG	ENSP00000489147.2:n.948-27_948-26insCATCGCGTCCGTG
ENST00000673971.1:c.1305-27_1305-26insCATCGCGTCCGTG	ENSP00000501192.1:n.1305-27_1305-26insCATCGCGTCCGTG
ENST00000262795.5:c.1345-28_1345-27insCATCGCGTCCGTG	ENSP00000489147.1:n.1345-28_1345-27insCATCGCGTCCGTG
ENST00000414786.6:n.1532-27_1532-26insCATCGCGTCCGTG
ENST00000445220.5:c.1326-27_1326-26insCATCGCGTCCGTG	ENSP00000489407.1:n.1326-27_1326-26insCATCGCGTCCGTG