Canonical Allele Identifier: CA2580084796

Gene: SHANK2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70485544_70485548del , CM000673.2:g.70485544_70485548del	GRCh38
NC_000011.9:g.70331649_70331653del , CM000673.1:g.70331649_70331653del	GRCh37
NC_000011.8:g.70009297_70009301del	NCBI36
NG_042866.1:g.644253_644257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2982_2986del	ENSP00000345193.7:p.Pro995AlafsTer?
ENST00000412252.6:c.757+4759_757+4763del	ENSP00000414876.2:n.757+4759_757+4763del
ENST00000601538.6:c.4749_4753del MANE Select	ENSP00000469689.2:p.Pro1584AlafsTer?
ENST00000654939.1:c.2177_2181del
ENST00000656230.1:c.3612_3616del	ENSP00000499561.1:p.Pro1205AlafsTer?
ENST00000659264.1:c.3039_3043del	ENSP00000499270.1:p.Pro1014AlafsTer?
ENST00000338508.8:c.2985_2989del	ENSP00000345193.6:p.Pro996AlafsTer?
ENST00000357171.7:c.718+4759_718+4763del	ENSP00000349694.4:n.718+4759_718+4763del
ENST00000409161.5:c.2961_2965del	ENSP00000386491.1:p.Pro988AlafsTer?
ENST00000412252.5:c.755+4759_755+4763del
ENST00000423696.6:c.3612_3616del	ENSP00000394536.2:p.Pro1205AlafsTer?
ENST00000424924.5:c.2586_2590del	ENSP00000402944.1:p.Pro863AlafsTer?
ENST00000449833.6:c.2985_2989del	ENSP00000399423.3:p.Pro996AlafsTer?
ENST00000601538.5:c.4749_4753del	ENSP00000469689.2:p.Pro1584AlafsTer?
NM_012309.4:c.4749_4753del	NP_036441.2:p.Pro1584AlafsTer?
NM_133266.4:c.2985_2989del	NP_573573.2:p.Pro996AlafsTer?
NR_110766.1:n.833+4759_833+4763del
XM_005277930.2:c.4749_4753del	XP_005277987.1:p.Pro1584AlafsTer?
XM_005277932.2:c.3612_3616del	XP_005277989.1:p.Pro1205AlafsTer?
XM_006718478.2:c.4719_4723del	XP_006718541.1:p.Pro1574AlafsTer?
XM_011544854.1:c.4761_4765del	XP_011543156.1:p.Pro1588AlafsTer?
XM_011544855.1:c.4740_4744del	XP_011543157.1:p.Pro1581AlafsTer?
XM_011544856.1:c.4734_4738del	XP_011543158.1:p.Pro1579AlafsTer?
XM_011544857.1:c.4713_4717del	XP_011543159.1:p.Pro1572AlafsTer?
XM_011544858.1:c.4761_4765del	XP_011543160.1:p.Pro1588AlafsTer?
XM_011544859.1:c.3624_3628del	XP_011543161.1:p.Pro1209AlafsTer?
XM_005277932.3:c.3612_3616del	XP_005277989.1:p.Pro1205AlafsTer?
XM_017017387.1:c.4749_4753del	XP_016872876.1:p.Pro1584AlafsTer?
XM_017017388.1:c.4749_4753del	XP_016872877.1:p.Pro1584AlafsTer?
XM_017017389.1:c.4722_4726del	XP_016872878.1:p.Pro1575AlafsTer?
XM_017017390.1:c.3039_3043del	XP_016872879.1:p.Pro1014AlafsTer?
NM_133266.5:c.2985_2989del	NP_573573.2:p.Pro996AlafsTer?
NR_110766.2:n.834+4759_834+4763del
NM_001379226.1:c.3612_3616del	NP_001366155.1:p.Pro1205AlafsTer?
NM_012309.5:c.4749_4753del MANE Select	NP_036441.2:p.Pro1584AlafsTer?