Canonical Allele Identifier: CA2657580880

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50721434-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50721434_50721435insG , CM000684.2:g.50721434_50721435insG	GRCh38
NC_000022.10:g.51159862_51159863insG , CM000684.1:g.51159862_51159863insG	GRCh37
NC_000022.9:g.49506728_49506729insG	NCBI36
NG_008607.2:g.52080_52081insG
NG_070230.1:g.57218_57219insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.3202_3203insG	ENSP00000489147.2:p.Thr1068SerfsTer?
ENST00000414786.7:n.3786_3787insG
ENST00000445220.7:c.2254_2255insG	ENSP00000489407.2:p.Thr752SerfsTer?
ENST00000664402.2:c.1744_1745insG	ENSP00000499475.1:p.Thr582SerfsTer?
ENST00000673971.2:c.*2200_*2201insG	ENSP00000501192.1:n.*2200_*2201insG
ENST00000445220.6:c.2254_2255insG	ENSP00000489407.2:p.Thr752SerfsTer?
ENST00000262795.6:c.3202_3203insG	ENSP00000489147.2:p.Thr1068SerfsTer?
ENST00000664402.1:c.1744_1745insG	ENSP00000499475.1:p.Thr582SerfsTer?
ENST00000673971.1:c.*2200_*2201insG	ENSP00000501192.1:n.*2200_*2201insG
ENST00000262795.5:c.3598_3599insG	ENSP00000489147.1:p.Thr1200SerfsTer?
ENST00000414786.6:n.3786_3787insG
ENST00000445220.5:c.3580_3581insG	ENSP00000489407.1:p.Thr1194SerfsTer?