Canonical Allele Identifier: CA2657598458

Gene: SHANK3

Linked Data

• gnomAD v4: 22-50697566-C-CGTG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50697566_50697567insGTG , CM000684.2:g.50697566_50697567insGTG	GRCh38
NC_000022.10:g.51135994_51135995insGTG , CM000684.1:g.51135994_51135995insGTG	GRCh37
NC_000022.9:g.49482860_49482861insGTG	NCBI36
NG_008607.2:g.28212_28213insGTG
NG_070230.1:g.33431_33432insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262795.7:c.950_951insGTG	ENSP00000489147.2:p.Pro317_Ala318insCys
ENST00000414786.7:n.1534_1535insGTG
ENST00000445220.7:c.2_3insGTG	ENSP00000489407.2:p.Pro1_Ala2insCys
ENST00000673971.2:c.1307_1308insGTG	ENSP00000501192.1:p.Pro436_Ala437insCys
ENST00000445220.6:c.2_3insGTG	ENSP00000489407.2:p.Pro1_Ala2insCys
ENST00000262795.6:c.950_951insGTG	ENSP00000489147.2:p.Pro317_Ala318insCys
ENST00000673971.1:c.1307_1308insGTG	ENSP00000501192.1:p.Pro436_Ala437insCys
ENST00000673995.1:c.3_4insGTG
ENST00000262795.5:c.1346_1347insGTG	ENSP00000489147.1:p.Pro449_Ala450insCys
ENST00000414786.6:n.1534_1535insGTG
ENST00000445220.5:c.1328_1329insGTG	ENSP00000489407.1:p.Pro443_Ala444insCys