Canonical Allele Identifier: CA2609118432

Gene: CHAT

Linked Data

• gnomAD v4: 10-49655233-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655235dup , CM000672.2:g.49655235dup	GRCh38
NC_000010.10:g.50863281dup , CM000672.1:g.50863281dup	GRCh37
NC_000010.9:g.50533287dup	NCBI36
NG_011797.1:g.51141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1775dup MANE Select	ENSP00000337103.2:p.Ala593SerfsTer3
ENST00000638282.1:c.*612dup	ENSP00000492646.1:n.*612dup
ENST00000638683.1:n.412dup
ENST00000640822.1:c.638dup	ENSP00000491328.1:p.Ala214SerfsTer3
ENST00000337653.6:c.1775dup	ENSP00000337103.2:p.Ala593SerfsTer3
ENST00000339797.5:c.1421dup	ENSP00000343486.1:p.Ala475SerfsTer3
ENST00000351556.7:c.1421dup	ENSP00000345878.3:p.Ala475SerfsTer3
ENST00000395559.6:c.1421dup	ENSP00000378926.2:p.Ala475SerfsTer3
ENST00000395562.2:c.1529dup	ENSP00000378929.2:p.Ala511SerfsTer3
ENST00000466590.6:c.*1506dup	ENSP00000473443.1:n.*1506dup
NM_001142929.1:c.1421dup	NP_001136401.1:p.Ala475SerfsTer3
NM_001142933.1:c.1529dup	NP_001136405.1:p.Ala511SerfsTer3
NM_001142934.1:c.1421dup	NP_001136406.1:p.Ala475SerfsTer3
NM_020549.4:c.1775dup	NP_065574.3:p.Ala593SerfsTer3
NM_020984.3:c.1421dup	NP_066264.3:p.Ala475SerfsTer3
NM_020985.3:c.1421dup	NP_066265.3:p.Ala475SerfsTer3
NM_020986.3:c.1421dup	NP_066266.3:p.Ala475SerfsTer3
NM_001142929.2:c.1421dup	NP_001136401.2:p.Ala475SerfsTer3
NM_001142933.2:c.1529dup	NP_001136405.2:p.Ala511SerfsTer3
NM_001142934.2:c.1421dup	NP_001136406.2:p.Ala475SerfsTer3
NM_020549.5:c.1775dup MANE Select	NP_065574.4:p.Ala593SerfsTer3
NM_020984.4:c.1421dup	NP_066264.4:p.Ala475SerfsTer3
NM_020985.4:c.1421dup	NP_066265.4:p.Ala475SerfsTer3
NM_020986.4:c.1421dup	NP_066266.4:p.Ala475SerfsTer3