Canonical Allele Identifier: CA913190294

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485988_70485989del , CM000673.2:g.70485988_70485989del	GRCh38
NC_000011.9:g.70332093_70332094del , CM000673.1:g.70332093_70332094del	GRCh37
NC_000011.8:g.70009741_70009742del	NCBI36
NG_042866.1:g.643808_643809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2537_2538del	ENSP00000345193.7:p.Ser846Ter
ENST00000412252.6:c.757+4314_757+4315del	ENSP00000414876.2:n.757+4314_757+4315del
ENST00000601538.6:c.4304_4305del MANE Select	ENSP00000469689.2:p.Ser1435Ter
ENST00000654939.1:c.1732_1733del
ENST00000656230.1:c.3167_3168del	ENSP00000499561.1:p.Ser1056Ter
ENST00000659264.1:c.2594_2595del	ENSP00000499270.1:p.Ser865Ter
ENST00000338508.8:c.2540_2541del	ENSP00000345193.6:p.Ser847Ter
ENST00000357171.7:c.718+4314_718+4315del	ENSP00000349694.4:n.718+4314_718+4315del
ENST00000409161.5:c.2516_2517del	ENSP00000386491.1:p.Ser839Ter
ENST00000412252.5:c.755+4314_755+4315del
ENST00000423696.6:c.3167_3168del	ENSP00000394536.2:p.Ser1056Ter
ENST00000424924.5:c.2141_2142del	ENSP00000402944.1:p.Ser714Ter
ENST00000449833.6:c.2540_2541del	ENSP00000399423.3:p.Ser847Ter
ENST00000601538.5:c.4304_4305del	ENSP00000469689.2:p.Ser1435Ter
NM_012309.4:c.4304_4305del	NP_036441.2:p.Ser1435Ter
NM_133266.4:c.2540_2541del	NP_573573.2:p.Ser847Ter
NR_110766.1:n.833+4314_833+4315del
XM_005277930.2:c.4304_4305del	XP_005277987.1:p.Ser1435Ter
XM_005277932.2:c.3167_3168del	XP_005277989.1:p.Ser1056Ter
XM_006718478.2:c.4274_4275del	XP_006718541.1:p.Ser1425Ter
XM_011544854.1:c.4316_4317del	XP_011543156.1:p.Ser1439Ter
XM_011544855.1:c.4295_4296del	XP_011543157.1:p.Ser1432Ter
XM_011544856.1:c.4289_4290del	XP_011543158.1:p.Ser1430Ter
XM_011544857.1:c.4268_4269del	XP_011543159.1:p.Ser1423Ter
XM_011544858.1:c.4316_4317del	XP_011543160.1:p.Ser1439Ter
XM_011544859.1:c.3179_3180del	XP_011543161.1:p.Ser1060Ter
XM_005277932.3:c.3167_3168del	XP_005277989.1:p.Ser1056Ter
XM_017017387.1:c.4304_4305del	XP_016872876.1:p.Ser1435Ter
XM_017017388.1:c.4304_4305del	XP_016872877.1:p.Ser1435Ter
XM_017017389.1:c.4277_4278del	XP_016872878.1:p.Ser1426Ter
XM_017017390.1:c.2594_2595del	XP_016872879.1:p.Ser865Ter
NM_133266.5:c.2540_2541del	NP_573573.2:p.Ser847Ter
NR_110766.2:n.834+4314_834+4315del
NM_001379226.1:c.3167_3168del	NP_001366155.1:p.Ser1056Ter
NM_012309.5:c.4304_4305del MANE Select	NP_036441.2:p.Ser1435Ter