Canonical Allele Identifier: CA891842850

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485702_70485703del , CM000673.2:g.70485702_70485703del	GRCh38
NC_000011.9:g.70331807_70331808del , CM000673.1:g.70331807_70331808del	GRCh37
NC_000011.8:g.70009455_70009456del	NCBI36
NG_042866.1:g.644096_644097del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2825_2826del	ENSP00000345193.7:p.Thr942SerfsTer11
ENST00000412252.6:c.757+4602_757+4603del	ENSP00000414876.2:n.757+4602_757+4603del
ENST00000601538.6:c.4592_4593del MANE Select	ENSP00000469689.2:p.Thr1531SerfsTer11
ENST00000654939.1:c.2020_2021del
ENST00000656230.1:c.3455_3456del	ENSP00000499561.1:p.Thr1152SerfsTer11
ENST00000659264.1:c.2882_2883del	ENSP00000499270.1:p.Thr961SerfsTer11
ENST00000338508.8:c.2828_2829del	ENSP00000345193.6:p.Thr943SerfsTer11
ENST00000357171.7:c.718+4602_718+4603del	ENSP00000349694.4:n.718+4602_718+4603del
ENST00000409161.5:c.2804_2805del	ENSP00000386491.1:p.Thr935SerfsTer11
ENST00000412252.5:c.755+4602_755+4603del
ENST00000423696.6:c.3455_3456del	ENSP00000394536.2:p.Thr1152SerfsTer11
ENST00000424924.5:c.2429_2430del	ENSP00000402944.1:p.Thr810SerfsTer11
ENST00000449833.6:c.2828_2829del	ENSP00000399423.3:p.Thr943SerfsTer11
ENST00000601538.5:c.4592_4593del	ENSP00000469689.2:p.Thr1531SerfsTer11
NM_012309.4:c.4592_4593del	NP_036441.2:p.Thr1531SerfsTer11
NM_133266.4:c.2828_2829del	NP_573573.2:p.Thr943SerfsTer11
NR_110766.1:n.833+4602_833+4603del
XM_005277930.2:c.4592_4593del	XP_005277987.1:p.Thr1531SerfsTer11
XM_005277932.2:c.3455_3456del	XP_005277989.1:p.Thr1152SerfsTer11
XM_006718478.2:c.4562_4563del	XP_006718541.1:p.Thr1521SerfsTer11
XM_011544854.1:c.4604_4605del	XP_011543156.1:p.Thr1535SerfsTer11
XM_011544855.1:c.4583_4584del	XP_011543157.1:p.Thr1528SerfsTer11
XM_011544856.1:c.4577_4578del	XP_011543158.1:p.Thr1526SerfsTer11
XM_011544857.1:c.4556_4557del	XP_011543159.1:p.Thr1519SerfsTer11
XM_011544858.1:c.4604_4605del	XP_011543160.1:p.Thr1535SerfsTer11
XM_011544859.1:c.3467_3468del	XP_011543161.1:p.Thr1156SerfsTer11
XM_005277932.3:c.3455_3456del	XP_005277989.1:p.Thr1152SerfsTer11
XM_017017387.1:c.4592_4593del	XP_016872876.1:p.Thr1531SerfsTer11
XM_017017388.1:c.4592_4593del	XP_016872877.1:p.Thr1531SerfsTer11
XM_017017389.1:c.4565_4566del	XP_016872878.1:p.Thr1522SerfsTer11
XM_017017390.1:c.2882_2883del	XP_016872879.1:p.Thr961SerfsTer11
NM_133266.5:c.2828_2829del	NP_573573.2:p.Thr943SerfsTer11
NR_110766.2:n.834+4602_834+4603del
NM_001379226.1:c.3455_3456del	NP_001366155.1:p.Thr1152SerfsTer11
NM_012309.5:c.4592_4593del MANE Select	NP_036441.2:p.Thr1531SerfsTer11