Canonical Allele Identifier: CA2609144751

Gene: CHAT

Linked Data

• gnomAD v4: 10-49625539-C-CTATG

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625540_49625543dup , CM000672.2:g.49625540_49625543dup	GRCh38
NC_000010.10:g.50833586_50833589dup , CM000672.1:g.50833586_50833589dup	GRCh37
NC_000010.9:g.50503592_50503595dup	NCBI36
NG_011797.1:g.21446_21449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.820_823dup MANE Select	ENSP00000337103.2:p.Gly275ValfsTer29
ENST00000337653.6:c.820_823dup	ENSP00000337103.2:p.Gly275ValfsTer29
ENST00000339797.5:c.466_469dup	ENSP00000343486.1:p.Gly157ValfsTer29
ENST00000351556.7:c.466_469dup	ENSP00000345878.3:p.Gly157ValfsTer29
ENST00000395559.6:c.466_469dup	ENSP00000378926.2:p.Gly157ValfsTer29
ENST00000395562.2:c.574_577dup	ENSP00000378929.2:p.Gly193ValfsTer29
ENST00000466590.6:c.*551_*554dup	ENSP00000473443.1:n.*551_*554dup
NM_001142929.1:c.466_469dup	NP_001136401.1:p.Gly157ValfsTer29
NM_001142933.1:c.574_577dup	NP_001136405.1:p.Gly193ValfsTer29
NM_001142934.1:c.466_469dup	NP_001136406.1:p.Gly157ValfsTer29
NM_020549.4:c.820_823dup	NP_065574.3:p.Gly275ValfsTer29
NM_020984.3:c.466_469dup	NP_066264.3:p.Gly157ValfsTer29
NM_020985.3:c.466_469dup	NP_066265.3:p.Gly157ValfsTer29
NM_020986.3:c.466_469dup	NP_066266.3:p.Gly157ValfsTer29
NM_001142929.2:c.466_469dup	NP_001136401.2:p.Gly157ValfsTer29
NM_001142933.2:c.574_577dup	NP_001136405.2:p.Gly193ValfsTer29
NM_001142934.2:c.466_469dup	NP_001136406.2:p.Gly157ValfsTer29
NM_020549.5:c.820_823dup MANE Select	NP_065574.4:p.Gly275ValfsTer29
NM_020984.4:c.466_469dup	NP_066264.4:p.Gly157ValfsTer29
NM_020985.4:c.466_469dup	NP_066265.4:p.Gly157ValfsTer29
NM_020986.4:c.466_469dup	NP_066266.4:p.Gly157ValfsTer29