Canonical Allele Identifier: CA600036867

Gene: SHANK2

Linked Data

• dbSNP Id: rs1555149405
• gnomAD v2: 11-70319798-ACCTGCCTGTGCTGGGGGG-A
• gnomAD v3: 11-70473693-ACCTGCCTGTGCTGGGGGG-A
• gnomAD v4: 11-70473693-ACCTGCCTGTGCTGGGGGG-A
• MyVariant Identifiers: chr11:g.70319799_70319816del (hg19) ; chr11:g.70473694_70473711del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473694_70473711del , CM000673.2:g.70473694_70473711del	GRCh38
NC_000011.9:g.70319799_70319816del , CM000673.1:g.70319799_70319816del	GRCh37
NC_000011.8:g.69997447_69997464del	NCBI36
NG_042866.1:g.656086_656103del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-272_3213-255del	ENSP00000345193.7:n.3213-272_3213-255del
ENST00000412252.6:c.758-272_758-255del	ENSP00000414876.2:n.758-272_758-255del
ENST00000601538.6:c.4980-272_4980-255del MANE Select	ENSP00000469689.2:n.4980-272_4980-255del
ENST00000654939.1:c.2489-272_2489-255del
ENST00000656230.1:c.3843-272_3843-255del	ENSP00000499561.1:n.3843-272_3843-255del
ENST00000659264.1:c.3270-272_3270-255del	ENSP00000499270.1:n.3270-272_3270-255del
ENST00000338508.8:c.3216-272_3216-255del	ENSP00000345193.6:n.3216-272_3216-255del
ENST00000357171.7:c.719-272_719-255del	ENSP00000349694.4:n.719-272_719-255del
ENST00000409161.5:c.3192-272_3192-255del	ENSP00000386491.1:n.3192-272_3192-255del
ENST00000412252.5:c.756-272_756-255del
ENST00000423696.6:c.3843-272_3843-255del	ENSP00000394536.2:n.3843-272_3843-255del
ENST00000424924.5:c.2817-272_2817-255del	ENSP00000402944.1:n.2817-272_2817-255del
ENST00000449833.6:c.3216-272_3216-255del	ENSP00000399423.3:n.3216-272_3216-255del
ENST00000601538.5:c.4980-272_4980-255del	ENSP00000469689.2:n.4980-272_4980-255del
ENST00000606715.3:n.1460_1477del
NM_012309.4:c.4980-272_4980-255del	NP_036441.2:n.4980-272_4980-255del
NM_133266.4:c.3216-272_3216-255del	NP_573573.2:n.3216-272_3216-255del
NR_110766.1:n.834-272_834-255del
XM_005277930.2:c.4980-272_4980-255del	XP_005277987.1:n.4980-272_4980-255del
XM_005277932.2:c.3843-272_3843-255del	XP_005277989.1:n.3843-272_3843-255del
XM_006718478.2:c.4950-272_4950-255del	XP_006718541.1:n.4950-272_4950-255del
XM_011544854.1:c.4992-272_4992-255del	XP_011543156.1:n.4992-272_4992-255del
XM_011544855.1:c.4971-272_4971-255del	XP_011543157.1:n.4971-272_4971-255del
XM_011544856.1:c.4965-272_4965-255del	XP_011543158.1:n.4965-272_4965-255del
XM_011544857.1:c.4944-272_4944-255del	XP_011543159.1:n.4944-272_4944-255del
XM_011544859.1:c.3855-272_3855-255del	XP_011543161.1:n.3855-272_3855-255del
XM_005277932.3:c.3843-272_3843-255del	XP_005277989.1:n.3843-272_3843-255del
XM_017017387.1:c.4980-272_4980-255del	XP_016872876.1:n.4980-272_4980-255del
XM_017017388.1:c.4980-272_4980-255del	XP_016872877.1:n.4980-272_4980-255del
XM_017017389.1:c.4953-272_4953-255del	XP_016872878.1:n.4953-272_4953-255del
XM_017017390.1:c.3270-272_3270-255del	XP_016872879.1:n.3270-272_3270-255del
NM_133266.5:c.3216-272_3216-255del	NP_573573.2:n.3216-272_3216-255del
NR_110766.2:n.835-272_835-255del
NM_001379226.1:c.3843-272_3843-255del	NP_001366155.1:n.3843-272_3843-255del
NM_012309.5:c.4980-272_4980-255del MANE Select	NP_036441.2:n.4980-272_4980-255del