Canonical Allele Identifier: CA2614838683

Gene: SHANK2

Linked Data

• gnomAD v4: 11-70486007-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.70486008_70486009del , CM000673.2:g.70486008_70486009del	GRCh38
NC_000011.9:g.70332113_70332114del , CM000673.1:g.70332113_70332114del	GRCh37
NC_000011.8:g.70009761_70009762del	NCBI36
NG_042866.1:g.643788_643789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338508.9:c.2517_2518del	ENSP00000345193.7:p.Ala840PhefsTer?
ENST00000412252.6:c.757+4294_757+4295del	ENSP00000414876.2:n.757+4294_757+4295del
ENST00000601538.6:c.4284_4285del MANE Select	ENSP00000469689.2:p.Ala1429PhefsTer?
ENST00000654939.1:c.1712_1713del
ENST00000656230.1:c.3147_3148del	ENSP00000499561.1:p.Ala1050PhefsTer?
ENST00000659264.1:c.2574_2575del	ENSP00000499270.1:p.Ala859PhefsTer?
ENST00000338508.8:c.2520_2521del	ENSP00000345193.6:p.Ala841PhefsTer?
ENST00000357171.7:c.718+4294_718+4295del	ENSP00000349694.4:n.718+4294_718+4295del
ENST00000409161.5:c.2496_2497del	ENSP00000386491.1:p.Ala833PhefsTer?
ENST00000412252.5:c.755+4294_755+4295del
ENST00000423696.6:c.3147_3148del	ENSP00000394536.2:p.Ala1050PhefsTer?
ENST00000424924.5:c.2121_2122del	ENSP00000402944.1:p.Ala708PhefsTer?
ENST00000449833.6:c.2520_2521del	ENSP00000399423.3:p.Ala841PhefsTer?
ENST00000601538.5:c.4284_4285del	ENSP00000469689.2:p.Ala1429PhefsTer?
NM_012309.4:c.4284_4285del	NP_036441.2:p.Ala1429PhefsTer?
NM_133266.4:c.2520_2521del	NP_573573.2:p.Ala841PhefsTer?
NR_110766.1:n.833+4294_833+4295del
XM_005277930.2:c.4284_4285del	XP_005277987.1:p.Ala1429PhefsTer?
XM_005277932.2:c.3147_3148del	XP_005277989.1:p.Ala1050PhefsTer?
XM_006718478.2:c.4254_4255del	XP_006718541.1:p.Ala1419PhefsTer?
XM_011544854.1:c.4296_4297del	XP_011543156.1:p.Ala1433PhefsTer?
XM_011544855.1:c.4275_4276del	XP_011543157.1:p.Ala1426PhefsTer?
XM_011544856.1:c.4269_4270del	XP_011543158.1:p.Ala1424PhefsTer?
XM_011544857.1:c.4248_4249del	XP_011543159.1:p.Ala1417PhefsTer?
XM_011544858.1:c.4296_4297del	XP_011543160.1:p.Ala1433PhefsTer?
XM_011544859.1:c.3159_3160del	XP_011543161.1:p.Ala1054PhefsTer?
XM_005277932.3:c.3147_3148del	XP_005277989.1:p.Ala1050PhefsTer?
XM_017017387.1:c.4284_4285del	XP_016872876.1:p.Ala1429PhefsTer?
XM_017017388.1:c.4284_4285del	XP_016872877.1:p.Ala1429PhefsTer?
XM_017017389.1:c.4257_4258del	XP_016872878.1:p.Ala1420PhefsTer?
XM_017017390.1:c.2574_2575del	XP_016872879.1:p.Ala859PhefsTer?
NM_133266.5:c.2520_2521del	NP_573573.2:p.Ala841PhefsTer?
NR_110766.2:n.834+4294_834+4295del
NM_001379226.1:c.3147_3148del	NP_001366155.1:p.Ala1050PhefsTer?
NM_012309.5:c.4284_4285del MANE Select	NP_036441.2:p.Ala1429PhefsTer?