Canonical Allele Identifier: CA2614835824

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473598-TGGGGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473606_70473611del , CM000673.2:g.70473606_70473611del	GRCh38
NC_000011.9:g.70319711_70319716del , CM000673.1:g.70319711_70319716del	GRCh37
NC_000011.8:g.69997359_69997364del	NCBI36
NG_042866.1:g.656193_656198del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3213-165_3213-160del	ENSP00000345193.7:n.3213-165_3213-160del
ENST00000412252.6:c.758-165_758-160del	ENSP00000414876.2:n.758-165_758-160del
ENST00000601538.6:c.4980-165_4980-160del MANE Select	ENSP00000469689.2:n.4980-165_4980-160del
ENST00000654939.1:c.2489-165_2489-160del
ENST00000656230.1:c.3843-165_3843-160del	ENSP00000499561.1:n.3843-165_3843-160del
ENST00000659264.1:c.3270-165_3270-160del	ENSP00000499270.1:n.3270-165_3270-160del
ENST00000338508.8:c.3216-165_3216-160del	ENSP00000345193.6:n.3216-165_3216-160del
ENST00000357171.7:c.719-165_719-160del	ENSP00000349694.4:n.719-165_719-160del
ENST00000409161.5:c.3192-165_3192-160del	ENSP00000386491.1:n.3192-165_3192-160del
ENST00000412252.5:c.756-165_756-160del
ENST00000423696.6:c.3843-165_3843-160del	ENSP00000394536.2:n.3843-165_3843-160del
ENST00000424924.5:c.2817-165_2817-160del	ENSP00000402944.1:n.2817-165_2817-160del
ENST00000449833.6:c.3216-165_3216-160del	ENSP00000399423.3:n.3216-165_3216-160del
ENST00000601538.5:c.4980-165_4980-160del	ENSP00000469689.2:n.4980-165_4980-160del
ENST00000606715.3:n.1567_1572del
NM_012309.4:c.4980-165_4980-160del	NP_036441.2:n.4980-165_4980-160del
NM_133266.4:c.3216-165_3216-160del	NP_573573.2:n.3216-165_3216-160del
NR_110766.1:n.834-165_834-160del
XM_005277930.2:c.4980-165_4980-160del	XP_005277987.1:n.4980-165_4980-160del
XM_005277932.2:c.3843-165_3843-160del	XP_005277989.1:n.3843-165_3843-160del
XM_006718478.2:c.4950-165_4950-160del	XP_006718541.1:n.4950-165_4950-160del
XM_011544854.1:c.4992-165_4992-160del	XP_011543156.1:n.4992-165_4992-160del
XM_011544855.1:c.4971-165_4971-160del	XP_011543157.1:n.4971-165_4971-160del
XM_011544856.1:c.4965-165_4965-160del	XP_011543158.1:n.4965-165_4965-160del
XM_011544857.1:c.4944-165_4944-160del	XP_011543159.1:n.4944-165_4944-160del
XM_011544859.1:c.3855-165_3855-160del	XP_011543161.1:n.3855-165_3855-160del
XM_005277932.3:c.3843-165_3843-160del	XP_005277989.1:n.3843-165_3843-160del
XM_017017387.1:c.4980-165_4980-160del	XP_016872876.1:n.4980-165_4980-160del
XM_017017388.1:c.4980-165_4980-160del	XP_016872877.1:n.4980-165_4980-160del
XM_017017389.1:c.4953-165_4953-160del	XP_016872878.1:n.4953-165_4953-160del
XM_017017390.1:c.3270-165_3270-160del	XP_016872879.1:n.3270-165_3270-160del
NM_133266.5:c.3216-165_3216-160del	NP_573573.2:n.3216-165_3216-160del
NR_110766.2:n.835-165_835-160del
NM_001379226.1:c.3843-165_3843-160del	NP_001366155.1:n.3843-165_3843-160del
NM_012309.5:c.4980-165_4980-160del MANE Select	NP_036441.2:n.4980-165_4980-160del