Canonical Allele Identifier: CA600241157

Gene: SHANK2

Linked Data

• gnomAD v2: 11-70319213-GTTGCAGTATC-G
• MyVariant Identifiers: chr11:g.70319214_70319225delinsGA (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70473109_70473118del , CM000673.2:g.70473109_70473118del	GRCh38
NC_000011.9:g.70319214_70319223del , CM000673.1:g.70319214_70319223del	GRCh37
NC_000011.8:g.69996862_69996871del	NCBI36
NG_042866.1:g.656679_656688del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.3534_3543del	ENSP00000345193.7:p.Ile1179SerfsTer28
ENST00000412252.6:c.1079_1088del	ENSP00000414876.2:n.1079_1088del
ENST00000601538.6:c.5301_5310del MANE Select	ENSP00000469689.2:p.Ile1768SerfsTer28
ENST00000654939.1:c.2810_2819del
ENST00000656230.1:c.4164_4173del	ENSP00000499561.1:p.Ile1389SerfsTer28
ENST00000659264.1:c.3591_3600del	ENSP00000499270.1:p.Ile1198SerfsTer28
ENST00000338508.8:c.3537_3546del	ENSP00000345193.6:p.Ile1180SerfsTer28
ENST00000357171.7:c.*305_*314del	ENSP00000349694.4:n.*305_*314del
ENST00000409161.5:c.3513_3522del	ENSP00000386491.1:p.Ile1172SerfsTer28
ENST00000412252.5:c.1077_1086del
ENST00000423696.6:c.4164_4173del	ENSP00000394536.2:p.Ile1389SerfsTer28
ENST00000424924.5:c.3138_3147del	ENSP00000402944.1:p.Ile1047SerfsTer28
ENST00000449833.6:c.3537_3546del	ENSP00000399423.3:p.Ile1180SerfsTer28
ENST00000601538.5:c.5301_5310del	ENSP00000469689.2:p.Ile1768SerfsTer28
ENST00000606715.3:n.2053_2062del
NM_012309.4:c.5301_5310del	NP_036441.2:p.Ile1768SerfsTer28
NM_133266.4:c.3537_3546del	NP_573573.2:p.Ile1180SerfsTer28
NR_110766.1:n.1155_1164del
XM_005277930.2:c.5301_5310del	XP_005277987.1:p.Ile1768SerfsTer28
XM_005277932.2:c.4164_4173del	XP_005277989.1:p.Ile1389SerfsTer28
XM_006718478.2:c.5271_5280del	XP_006718541.1:p.Ile1758SerfsTer28
XM_011544854.1:c.5313_5322del	XP_011543156.1:p.Ile1772SerfsTer28
XM_011544855.1:c.5292_5301del	XP_011543157.1:p.Ile1765SerfsTer28
XM_011544856.1:c.5286_5295del	XP_011543158.1:p.Ile1763SerfsTer28
XM_011544857.1:c.5265_5274del	XP_011543159.1:p.Ile1756SerfsTer28
XM_011544859.1:c.4176_4185del	XP_011543161.1:p.Ile1393SerfsTer28
XM_005277932.3:c.4164_4173del	XP_005277989.1:p.Ile1389SerfsTer28
XM_017017387.1:c.5301_5310del	XP_016872876.1:p.Ile1768SerfsTer28
XM_017017388.1:c.5301_5310del	XP_016872877.1:p.Ile1768SerfsTer28
XM_017017389.1:c.5274_5283del	XP_016872878.1:p.Ile1759SerfsTer28
XM_017017390.1:c.3591_3600del	XP_016872879.1:p.Ile1198SerfsTer28
NM_133266.5:c.3537_3546del	NP_573573.2:p.Ile1180SerfsTer28
NR_110766.2:n.1156_1165del
NM_001379226.1:c.4164_4173del	NP_001366155.1:p.Ile1389SerfsTer28
NM_012309.5:c.5301_5310del MANE Select	NP_036441.2:p.Ile1768SerfsTer28