Canonical Allele Identifier: CA2739265361

Gene: CHAT

Linked Data

• ClinVar Variation Id: 2884566
• ClinVar RCV Id: RCV003632450

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655101_49655102delinsCT , CM000672.2:g.49655101_49655102delinsCT	GRCh38
NC_000010.10:g.50863147_50863148delinsCT , CM000672.1:g.50863147_50863148delinsCT	GRCh37
NC_000010.9:g.50533153_50533154delinsCT	NCBI36
NG_011797.1:g.51007_51008delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1641_1642delinsCT MANE Select	ENSP00000337103.2:p.His548Ter
ENST00000638282.1:c.*478_*479delinsCT	ENSP00000492646.1:n.*478_*479delinsCT
ENST00000638683.1:n.278_279delinsCT
ENST00000640822.1:c.504_505delinsCT	ENSP00000491328.1:p.His169Ter
ENST00000337653.6:c.1641_1642delinsCT	ENSP00000337103.2:p.His548Ter
ENST00000339797.5:c.1287_1288delinsCT	ENSP00000343486.1:p.His430Ter
ENST00000351556.7:c.1287_1288delinsCT	ENSP00000345878.3:p.His430Ter
ENST00000395559.6:c.1287_1288delinsCT	ENSP00000378926.2:p.His430Ter
ENST00000395562.2:c.1395_1396delinsCT	ENSP00000378929.2:p.His466Ter
ENST00000466590.6:c.*1372_*1373delinsCT	ENSP00000473443.1:n.*1372_*1373delinsCT
NM_001142929.1:c.1287_1288delinsCT	NP_001136401.1:p.His430Ter
NM_001142933.1:c.1395_1396delinsCT	NP_001136405.1:p.His466Ter
NM_001142934.1:c.1287_1288delinsCT	NP_001136406.1:p.His430Ter
NM_020549.4:c.1641_1642delinsCT	NP_065574.3:p.His548Ter
NM_020984.3:c.1287_1288delinsCT	NP_066264.3:p.His430Ter
NM_020985.3:c.1287_1288delinsCT	NP_066265.3:p.His430Ter
NM_020986.3:c.1287_1288delinsCT	NP_066266.3:p.His430Ter
NM_001142929.2:c.1287_1288delinsCT	NP_001136401.2:p.His430Ter
NM_001142933.2:c.1395_1396delinsCT	NP_001136405.2:p.His466Ter
NM_001142934.2:c.1287_1288delinsCT	NP_001136406.2:p.His430Ter
NM_020549.5:c.1641_1642delinsCT MANE Select	NP_065574.4:p.His548Ter
NM_020984.4:c.1287_1288delinsCT	NP_066264.4:p.His430Ter
NM_020985.4:c.1287_1288delinsCT	NP_066265.4:p.His430Ter
NM_020986.4:c.1287_1288delinsCT	NP_066266.4:p.His430Ter