Canonical Allele Identifier: CA939358866

Gene: SHANK2

Linked Data

• dbSNP Id: rs1951347067
• gnomAD v3: 11-71084249-GCATAAGC-G
• gnomAD v4: 11-71084249-GCATAAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.71084252_71084258del , CM000673.2:g.71084252_71084258del	GRCh38
NG_042866.1:g.145541_145547del

Transcript Alleles

HGVS	Amino-acid change
ENST00000601538.6:c.912+8166_912+8172del MANE Select	ENSP00000469689.2:n.912+8166_912+8172del
ENST00000458632.2:c.320+8166_320+8172del
ENST00000601538.5:c.912+8166_912+8172del	ENSP00000469689.2:n.912+8166_912+8172del
ENST00000608988.5:c.*475+8166_*475+8172del	ENSP00000476264.2:n.*475+8166_*475+8172del
ENST00000618363.4:c.56+8166_56+8172del
NM_012309.4:c.912+8166_912+8172del	NP_036441.2:n.912+8166_912+8172del
XM_005277930.2:c.912+8166_912+8172del	XP_005277987.1:n.912+8166_912+8172del
XM_006718478.2:c.912+8166_912+8172del	XP_006718541.1:n.912+8166_912+8172del
XM_011544854.1:c.912+8166_912+8172del	XP_011543156.1:n.912+8166_912+8172del
XM_011544855.1:c.912+8166_912+8172del	XP_011543157.1:n.912+8166_912+8172del
XM_011544856.1:c.912+8166_912+8172del	XP_011543158.1:n.912+8166_912+8172del
XM_011544857.1:c.912+8166_912+8172del	XP_011543159.1:n.912+8166_912+8172del
XM_011544858.1:c.912+8166_912+8172del	XP_011543160.1:n.912+8166_912+8172del
XM_017017387.1:c.912+8166_912+8172del	XP_016872876.1:n.912+8166_912+8172del
XM_017017388.1:c.912+8166_912+8172del	XP_016872877.1:n.912+8166_912+8172del
XM_017017389.1:c.912+8166_912+8172del	XP_016872878.1:n.912+8166_912+8172del
NM_012309.5:c.912+8166_912+8172del MANE Select	NP_036441.2:n.912+8166_912+8172del