Canonical Allele Identifier: CA2609118584

Gene: CHAT

Linked Data

• gnomAD v4: 10-49655389-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655390del , CM000672.2:g.49655390del	GRCh38
NC_000010.10:g.50863436del , CM000672.1:g.50863436del	GRCh37
NC_000010.9:g.50533442del	NCBI36
NG_011797.1:g.51296del

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1781del MANE Select	ENSP00000337103.2:p.Ser594LeufsTer7
ENST00000638282.1:c.*618del	ENSP00000492646.1:n.*618del
ENST00000638683.1:n.418del
ENST00000640822.1:c.644del	ENSP00000491328.1:p.Ser215LeufsTer7
ENST00000337653.6:c.1781del	ENSP00000337103.2:p.Ser594LeufsTer7
ENST00000339797.5:c.1427del	ENSP00000343486.1:p.Ser476LeufsTer7
ENST00000351556.7:c.1427del	ENSP00000345878.3:p.Ser476LeufsTer7
ENST00000395559.6:c.1427del	ENSP00000378926.2:p.Ser476LeufsTer7
ENST00000395562.2:c.1535del	ENSP00000378929.2:p.Ser512LeufsTer7
ENST00000466590.6:c.*1512del	ENSP00000473443.1:n.*1512del
NM_001142929.1:c.1427del	NP_001136401.1:p.Ser476LeufsTer7
NM_001142933.1:c.1535del	NP_001136405.1:p.Ser512LeufsTer7
NM_001142934.1:c.1427del	NP_001136406.1:p.Ser476LeufsTer7
NM_020549.4:c.1781del	NP_065574.3:p.Ser594LeufsTer7
NM_020984.3:c.1427del	NP_066264.3:p.Ser476LeufsTer7
NM_020985.3:c.1427del	NP_066265.3:p.Ser476LeufsTer7
NM_020986.3:c.1427del	NP_066266.3:p.Ser476LeufsTer7
NM_001142929.2:c.1427del	NP_001136401.2:p.Ser476LeufsTer7
NM_001142933.2:c.1535del	NP_001136405.2:p.Ser512LeufsTer7
NM_001142934.2:c.1427del	NP_001136406.2:p.Ser476LeufsTer7
NM_020549.5:c.1781del MANE Select	NP_065574.4:p.Ser594LeufsTer7
NM_020984.4:c.1427del	NP_066264.4:p.Ser476LeufsTer7
NM_020985.4:c.1427del	NP_066265.4:p.Ser476LeufsTer7
NM_020986.4:c.1427del	NP_066266.4:p.Ser476LeufsTer7