Canonical Allele Identifier: CA1908834665

Gene: CHAT

Linked Data

• dbSNP Id: rs139324199

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655166_49655168dup , CM000672.2:g.49655166_49655168dup	GRCh38
NC_000010.10:g.50863212_50863214dup , CM000672.1:g.50863212_50863214dup	GRCh37
NC_000010.9:g.50533218_50533220dup	NCBI36
NG_011797.1:g.51072_51074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1706_1708dup MANE Select	ENSP00000337103.2:p.Asn569_Ile570insAsn
ENST00000638282.1:c.*543_*545dup	ENSP00000492646.1:n.*543_*545dup
ENST00000638683.1:n.343_345dup
ENST00000640822.1:c.569_571dup	ENSP00000491328.1:p.Asn190_Ile191insAsn
ENST00000337653.6:c.1706_1708dup	ENSP00000337103.2:p.Asn569_Ile570insAsn
ENST00000339797.5:c.1352_1354dup	ENSP00000343486.1:p.Asn451_Ile452insAsn
ENST00000351556.7:c.1352_1354dup	ENSP00000345878.3:p.Asn451_Ile452insAsn
ENST00000395559.6:c.1352_1354dup	ENSP00000378926.2:p.Asn451_Ile452insAsn
ENST00000395562.2:c.1460_1462dup	ENSP00000378929.2:p.Asn487_Ile488insAsn
ENST00000466590.6:c.*1437_*1439dup	ENSP00000473443.1:n.*1437_*1439dup
NM_001142929.1:c.1352_1354dup	NP_001136401.1:p.Asn451_Ile452insAsn
NM_001142933.1:c.1460_1462dup	NP_001136405.1:p.Asn487_Ile488insAsn
NM_001142934.1:c.1352_1354dup	NP_001136406.1:p.Asn451_Ile452insAsn
NM_020549.4:c.1706_1708dup	NP_065574.3:p.Asn569_Ile570insAsn
NM_020984.3:c.1352_1354dup	NP_066264.3:p.Asn451_Ile452insAsn
NM_020985.3:c.1352_1354dup	NP_066265.3:p.Asn451_Ile452insAsn
NM_020986.3:c.1352_1354dup	NP_066266.3:p.Asn451_Ile452insAsn
NM_001142929.2:c.1352_1354dup	NP_001136401.2:p.Asn451_Ile452insAsn
NM_001142933.2:c.1460_1462dup	NP_001136405.2:p.Asn487_Ile488insAsn
NM_001142934.2:c.1352_1354dup	NP_001136406.2:p.Asn451_Ile452insAsn
NM_020549.5:c.1706_1708dup MANE Select	NP_065574.4:p.Asn569_Ile570insAsn
NM_020984.4:c.1352_1354dup	NP_066264.4:p.Asn451_Ile452insAsn
NM_020985.4:c.1352_1354dup	NP_066265.4:p.Asn451_Ile452insAsn
NM_020986.4:c.1352_1354dup	NP_066266.4:p.Asn451_Ile452insAsn