Canonical Allele Identifier: CA645583697

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70473242-AG-A
• COSMIC: COSM6039606 ; COSM6039607 ; COSM6039608

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473248del , CM000673.2:g.70473248del	GRCh38
NC_000011.9:g.70319353del , CM000673.1:g.70319353del	GRCh37
NC_000011.8:g.69997001del	NCBI36
NG_042866.1:g.656554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3409del	ENSP00000345193.7:p.Leu1137CysfsTer30
ENST00000412252.6:c.954del	ENSP00000414876.2:n.954del
ENST00000601538.6:c.5176del MANE Select	ENSP00000469689.2:p.Leu1726CysfsTer30
ENST00000654939.1:c.2685del
ENST00000656230.1:c.4039del	ENSP00000499561.1:p.Leu1347CysfsTer30
ENST00000659264.1:c.3466del	ENSP00000499270.1:p.Leu1156CysfsTer30
ENST00000338508.8:c.3412del	ENSP00000345193.6:p.Leu1138CysfsTer30
ENST00000357171.7:c.*180del	ENSP00000349694.4:n.*180del
ENST00000409161.5:c.3388del	ENSP00000386491.1:p.Leu1130CysfsTer30
ENST00000412252.5:c.952del
ENST00000423696.6:c.4039del	ENSP00000394536.2:p.Leu1347CysfsTer30
ENST00000424924.5:c.3013del	ENSP00000402944.1:p.Leu1005CysfsTer30
ENST00000449833.6:c.3412del	ENSP00000399423.3:p.Leu1138CysfsTer30
ENST00000601538.5:c.5176del	ENSP00000469689.2:p.Leu1726CysfsTer30
ENST00000606715.3:n.1928del
NM_012309.4:c.5176del	NP_036441.2:p.Leu1726CysfsTer30
NM_133266.4:c.3412del	NP_573573.2:p.Leu1138CysfsTer30
NR_110766.1:n.1030del
XM_005277930.2:c.5176del	XP_005277987.1:p.Leu1726CysfsTer30
XM_005277932.2:c.4039del	XP_005277989.1:p.Leu1347CysfsTer30
XM_006718478.2:c.5146del	XP_006718541.1:p.Leu1716CysfsTer30
XM_011544854.1:c.5188del	XP_011543156.1:p.Leu1730CysfsTer30
XM_011544855.1:c.5167del	XP_011543157.1:p.Leu1723CysfsTer30
XM_011544856.1:c.5161del	XP_011543158.1:p.Leu1721CysfsTer30
XM_011544857.1:c.5140del	XP_011543159.1:p.Leu1714CysfsTer30
XM_011544859.1:c.4051del	XP_011543161.1:p.Leu1351CysfsTer30
XM_005277932.3:c.4039del	XP_005277989.1:p.Leu1347CysfsTer30
XM_017017387.1:c.5176del	XP_016872876.1:p.Leu1726CysfsTer30
XM_017017388.1:c.5176del	XP_016872877.1:p.Leu1726CysfsTer30
XM_017017389.1:c.5149del	XP_016872878.1:p.Leu1717CysfsTer30
XM_017017390.1:c.3466del	XP_016872879.1:p.Leu1156CysfsTer30
NM_133266.5:c.3412del	NP_573573.2:p.Leu1138CysfsTer30
NR_110766.2:n.1031del
NM_001379226.1:c.4039del	NP_001366155.1:p.Leu1347CysfsTer30
NM_012309.5:c.5176del MANE Select	NP_036441.2:p.Leu1726CysfsTer30