Canonical Allele Identifier: CA2535764556

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473146_70473147del , CM000673.2:g.70473146_70473147del	GRCh38
NC_000011.9:g.70319251_70319252del , CM000673.1:g.70319251_70319252del	GRCh37
NC_000011.8:g.69996899_69996900del	NCBI36
NG_042866.1:g.656651_656652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3506_3507del	ENSP00000345193.7:p.Ala1169GlyfsTer4
ENST00000412252.6:c.1051_1052del	ENSP00000414876.2:n.1051_1052del
ENST00000601538.6:c.5273_5274del MANE Select	ENSP00000469689.2:p.Ala1758GlyfsTer4
ENST00000654939.1:c.2782_2783del
ENST00000656230.1:c.4136_4137del	ENSP00000499561.1:p.Ala1379GlyfsTer4
ENST00000659264.1:c.3563_3564del	ENSP00000499270.1:p.Ala1188GlyfsTer4
ENST00000338508.8:c.3509_3510del	ENSP00000345193.6:p.Ala1170GlyfsTer4
ENST00000357171.7:c.*277_*278del	ENSP00000349694.4:n.*277_*278del
ENST00000409161.5:c.3485_3486del	ENSP00000386491.1:p.Ala1162GlyfsTer4
ENST00000412252.5:c.1049_1050del
ENST00000423696.6:c.4136_4137del	ENSP00000394536.2:p.Ala1379GlyfsTer4
ENST00000424924.5:c.3110_3111del	ENSP00000402944.1:p.Ala1037GlyfsTer4
ENST00000449833.6:c.3509_3510del	ENSP00000399423.3:p.Ala1170GlyfsTer4
ENST00000601538.5:c.5273_5274del	ENSP00000469689.2:p.Ala1758GlyfsTer4
ENST00000606715.3:n.2025_2026del
NM_012309.4:c.5273_5274del	NP_036441.2:p.Ala1758GlyfsTer4
NM_133266.4:c.3509_3510del	NP_573573.2:p.Ala1170GlyfsTer4
NR_110766.1:n.1127_1128del
XM_005277930.2:c.5273_5274del	XP_005277987.1:p.Ala1758GlyfsTer4
XM_005277932.2:c.4136_4137del	XP_005277989.1:p.Ala1379GlyfsTer4
XM_006718478.2:c.5243_5244del	XP_006718541.1:p.Ala1748GlyfsTer4
XM_011544854.1:c.5285_5286del	XP_011543156.1:p.Ala1762GlyfsTer4
XM_011544855.1:c.5264_5265del	XP_011543157.1:p.Ala1755GlyfsTer4
XM_011544856.1:c.5258_5259del	XP_011543158.1:p.Ala1753GlyfsTer4
XM_011544857.1:c.5237_5238del	XP_011543159.1:p.Ala1746GlyfsTer4
XM_011544859.1:c.4148_4149del	XP_011543161.1:p.Ala1383GlyfsTer4
XM_005277932.3:c.4136_4137del	XP_005277989.1:p.Ala1379GlyfsTer4
XM_017017387.1:c.5273_5274del	XP_016872876.1:p.Ala1758GlyfsTer4
XM_017017388.1:c.5273_5274del	XP_016872877.1:p.Ala1758GlyfsTer4
XM_017017389.1:c.5246_5247del	XP_016872878.1:p.Ala1749GlyfsTer4
XM_017017390.1:c.3563_3564del	XP_016872879.1:p.Ala1188GlyfsTer4
NM_133266.5:c.3509_3510del	NP_573573.2:p.Ala1170GlyfsTer4
NR_110766.2:n.1128_1129del
NM_001379226.1:c.4136_4137del	NP_001366155.1:p.Ala1379GlyfsTer4
NM_012309.5:c.5273_5274del MANE Select	NP_036441.2:p.Ala1758GlyfsTer4