Canonical Allele Identifier: CA2534072154

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473142del , CM000673.2:g.70473142del	GRCh38
NC_000011.9:g.70319247del , CM000673.1:g.70319247del	GRCh37
NC_000011.8:g.69996895del	NCBI36
NG_042866.1:g.656655del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3510del	ENSP00000345193.7:p.Arg1171AlafsTer?
ENST00000412252.6:c.1055del	ENSP00000414876.2:n.1055del
ENST00000601538.6:c.5277del MANE Select	ENSP00000469689.2:p.Arg1760AlafsTer?
ENST00000654939.1:c.2786del
ENST00000656230.1:c.4140del	ENSP00000499561.1:p.Arg1381AlafsTer?
ENST00000659264.1:c.3567del	ENSP00000499270.1:p.Arg1190AlafsTer?
ENST00000338508.8:c.3513del	ENSP00000345193.6:p.Arg1172AlafsTer?
ENST00000357171.7:c.*281del	ENSP00000349694.4:n.*281del
ENST00000409161.5:c.3489del	ENSP00000386491.1:p.Arg1164AlafsTer?
ENST00000412252.5:c.1053del
ENST00000423696.6:c.4140del	ENSP00000394536.2:p.Arg1381AlafsTer?
ENST00000424924.5:c.3114del	ENSP00000402944.1:p.Arg1039AlafsTer?
ENST00000449833.6:c.3513del	ENSP00000399423.3:p.Arg1172AlafsTer?
ENST00000601538.5:c.5277del	ENSP00000469689.2:p.Arg1760AlafsTer?
ENST00000606715.3:n.2029del
NM_012309.4:c.5277del	NP_036441.2:p.Arg1760AlafsTer?
NM_133266.4:c.3513del	NP_573573.2:p.Arg1172AlafsTer?
NR_110766.1:n.1131del
XM_005277930.2:c.5277del	XP_005277987.1:p.Arg1760AlafsTer?
XM_005277932.2:c.4140del	XP_005277989.1:p.Arg1381AlafsTer?
XM_006718478.2:c.5247del	XP_006718541.1:p.Arg1750AlafsTer?
XM_011544854.1:c.5289del	XP_011543156.1:p.Arg1764AlafsTer?
XM_011544855.1:c.5268del	XP_011543157.1:p.Arg1757AlafsTer?
XM_011544856.1:c.5262del	XP_011543158.1:p.Arg1755AlafsTer?
XM_011544857.1:c.5241del	XP_011543159.1:p.Arg1748AlafsTer?
XM_011544859.1:c.4152del	XP_011543161.1:p.Arg1385AlafsTer?
XM_005277932.3:c.4140del	XP_005277989.1:p.Arg1381AlafsTer?
XM_017017387.1:c.5277del	XP_016872876.1:p.Arg1760AlafsTer?
XM_017017388.1:c.5277del	XP_016872877.1:p.Arg1760AlafsTer?
XM_017017389.1:c.5250del	XP_016872878.1:p.Arg1751AlafsTer?
XM_017017390.1:c.3567del	XP_016872879.1:p.Arg1190AlafsTer?
NM_133266.5:c.3513del	NP_573573.2:p.Arg1172AlafsTer?
NR_110766.2:n.1132del
NM_001379226.1:c.4140del	NP_001366155.1:p.Arg1381AlafsTer?
NM_012309.5:c.5277del MANE Select	NP_036441.2:p.Arg1760AlafsTer?